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. RECQL4 suppresses promiscuous genetic recombination and ensures accurate chromosome segregation.
This gene is predominantly expressed in thymus and testis.
Genetic alterations of RECQL4 are a cause of Rothmund-Thomson syndrome (RTS), anautosomal recessive disorder associated with genomic instability, cancer predisposition and premature ageing. RTS is characterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.
Genetic alterations in RECQL4 are also a cause of RAPADILINO syndrome, a disease characterized by radial and patellar aplasia or hypoplasia.
RECQL4 mutations are a cause of Baller-Gerold syndrome (BGS); also known as craniosynostosis with radial defects. BGS is an autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. BGS is part of the clinical spectrum of Rothmund-Thomson and RAPADILINO syndromes.
References (open access):
Rothmund-Thomson syndrome. Larizza L, Roversi G, Volpi L. Orphanet J Rare Dis. 2010 Jan 29;5:2.
The mutation spectrum in RECQL4 diseases. Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. Eur J Hum Genet. 2009 Feb;17(2):151-8.