Gene: RECQL4

Alternate names for this Gene: RECQ4

Gene Summary: The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: RecQ like helicase 4

Type of Gene: protein-coding

Gene: LRRC14

Alternate names for this Gene: LRRC14A

Gene Summary: This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: leucine rich repeat containing 14

Type of Gene: protein-coding

rs746636748 in RECQL4;LRRC14 gene and Baller-Gerold syndrome PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

PMID 28039508 2017 Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

PMID 21143835 2010 Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.

PMID 25120469 2014 Rothmund-thomson syndrome: a 13-year follow-up.

PMID 12734318 2003 Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

rs1554902811 in RECQL4;LRRC14 gene and Dysmorphic features PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

PMID 24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

PMID 16681588 2006 An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.

PMID 19291770 2009 A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

PMID 18647888 2008 Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.

rs2721173 in RECQL4;LRRC14 gene and Intelligence PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs1554902811 in RECQL4;LRRC14 gene and Multiple congenital anomalies PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

PMID 18647888 2008 Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.

PMID 19291770 2009 A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

PMID 24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

PMID 16681588 2006 An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.