Gene: BPTF

Alternate names for this Gene: FAC1|FALZ|NEDDFL|NURF301

Gene Summary: This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely.

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.2

Description of this Gene: bromodomain PHD finger transcription factor

Type of Gene: protein-coding

rs1135401778 in BPTF gene and Abnormal aggressive, impulsive or violent behavior PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Abnormality of mouth size PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639076 in BPTF gene and Abnormality of pain sensation PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Abnormality of the periventricular white matter PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs7216064 in BPTF gene and Adenocarcinoma of lung (disorder) PMID 27501781 2016 Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma.

PMID 31326317 2019 Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.

PMID 22797724 2012 A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.

rs1135401778 in BPTF gene and Ataxia PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555649483 in BPTF gene and Autistic behavior PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Bilateral Cryptorchidism PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs60432162 in BPTF gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12449442 in BPTF gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs12449442 in BPTF gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1425998598 in BPTF gene and Broad hallux PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Broad lateral eyebrow PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Broad nasal tip PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639076 in BPTF gene and Bulbous nose PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555649483 in BPTF gene and Byzanthine arch palate PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Cataract PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639411 in BPTF gene and Choanal Atresia PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Chronic diarrhea PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Clinodactyly of the 5th finger PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639411 in BPTF gene and Constipation PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs753044214 in BPTF gene and Dysmorphic features PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

PMID 26014595 2015 ClinGen--the Clinical Genome Resource.

PMID 9225734 1997 FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord.

PMID 8521501 1995 Purification and properties of an ATP-dependent nucleosome remodeling factor.

PMID 24700502 2014 Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.

PMID 27513193 2017 Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

PMID 19713963 2009 The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway.

PMID 18974875 2008 Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells.

PMID 16774993 2006 C. elegans ISWI and NURF301 antagonize an Rb-like pathway in the determination of multiple cell fates.

PMID 18794365 2008 Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development.

PMID 14609955 2003 Isolation of human NURF: a regulator of Engrailed gene expression.

PMID 18848651 2009 A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

PMID 22166941 2012 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.

PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

PMID 11583616 2001 Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions.

PMID 18334252 2008 The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity.

PMID 16264191 2005 The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis.

PMID 16728978 2006 Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF.

rs60856912 in BPTF gene and Endometrial Carcinoma PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.

rs4791212 in BPTF gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1135401778 in BPTF gene and Erythema PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Exocrine pancreatic insufficiency PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555652383 in BPTF gene and Exotropia PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Expressive language delay PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555652383 in BPTF gene and Fifth finger distal phalanx clinodactyly PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555652383 in BPTF gene and Flatfoot PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639076 in BPTF gene and Gastrointestinal dysmotility PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Generalized hypotonia PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Global developmental delay PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Grammar-specific speech disorder PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639076 in BPTF gene and Headache PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs61676547 in BPTF gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs1555639076 in BPTF gene and Hip Dysplasia PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Isolated somatotropin deficiency PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Lack of subcutaneous fatty tissue PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639076 in BPTF gene and Large nose PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs782736894 in BPTF gene and Leukoaraiosis PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Long nose PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555649483 in BPTF gene and Low hanging columella PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555649483 in BPTF gene and Microcephaly (physical finding) PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Micrognathism PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639076 in BPTF gene and Mild Mental Retardation PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs782736894 in BPTF gene and Mild global developmental delay PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Moderate intellectual disability PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs753044214 in BPTF gene and Multiple congenital anomalies PMID 18974875 2008 Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells.

PMID 18794365 2008 Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development.

PMID 11583616 2001 Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions.

PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

PMID 22166941 2012 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.

PMID 18848651 2009 A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

PMID 14609955 2003 Isolation of human NURF: a regulator of Engrailed gene expression.

PMID 19713963 2009 The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway.

PMID 18334252 2008 The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity.

PMID 16728978 2006 Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF.

PMID 16264191 2005 The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis.

PMID 16774993 2006 C. elegans ISWI and NURF301 antagonize an Rb-like pathway in the determination of multiple cell fates.

PMID 24700502 2014 Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.

PMID 27513193 2017 Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

PMID 8521501 1995 Purification and properties of an ATP-dependent nucleosome remodeling factor.

PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 9225734 1997 FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord.

PMID 26014595 2015 ClinGen--the Clinical Genome Resource.

rs1555639076 in BPTF gene and Myopia PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs200595745 in BPTF gene and Non-Small Cell Lung Carcinoma PMID 31326317 2019 Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.

rs1425998598 in BPTF gene and Overriding toe PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639411 in BPTF gene and Patent ductus arteriosus PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639076 in BPTF gene and Pediatric failure to thrive PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Persistent pupillary membranes PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555693714 in BPTF gene and Poor school performance PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs782736894 in BPTF gene and Premature eruption of permanent teeth PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Prominent supraorbital ridges PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs782736894 in BPTF gene and Protruding ear PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs12602912 in BPTF gene and Psoriasis PMID 25854761 2015 Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.

rs1425998598 in BPTF gene and Range of joint movement increased PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Sandal gap PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Secondary microcephaly PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555652383 in BPTF gene and Severe expressive language delay PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555652383 in BPTF gene and Severe global developmental delay PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Severe myopia PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Short palpebral fissure PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1135401778 in BPTF gene and Sleep disturbances PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555649483 in BPTF gene and Slender finger PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555649483 in BPTF gene and Slender toe PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639076 in BPTF gene and Small hand PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Small pituitary gland PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1425998598 in BPTF gene and Small, conical teeth PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555639076 in BPTF gene and Telecanthus PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs782736894 in BPTF gene and Thick lower lip vermilion PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555649483 in BPTF gene and Thin upper lip vermilion PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1555652383 in BPTF gene and Underdeveloped nasal alae PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs12449442 in BPTF gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs2080090 in BPTF gene and body fat percentage (physical finding) PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.