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

rs1054186954 in RECQL4 gene and Baller-Gerold syndrome PMID 24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

PMID 27247962 2016 Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

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

PMID 15964893 2006 Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

PMID 15897384 2005 A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.

PMID 12838562 2003 RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.

PMID 10678659 2000 Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

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

PMID 12952869 2003 Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.

PMID 10319867 1999 Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.

PMID 21418107 2011 Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome.

PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

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

PMID 23899764 2013 Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.

PMID 18504617 2008 Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.

PMID 23238538 2012 The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients.

PMID 28486640 2017 Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.

PMID 24518840 2014 Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

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

rs137853229 in RECQL4 gene and Dysmorphic features PMID 16681588 2006 An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.

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.

rs137853229 in RECQL4 gene and Multiple congenital anomalies PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

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.

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

rs1085307090 in RECQL4 gene and Rapadilino syndrome PMID 10678659 2000 Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

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

rs1085307090 in RECQL4 gene and Rothmund-Thomson syndrome PMID 10678659 2000 Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

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

PMID 17250521 2007 Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome.