Show Summary Details
Page of

RECQL4-Related Recessive Conditions 

RECQL4-Related Recessive Conditions
Chapter:
RECQL4-Related Recessive Conditions
Author(s):

L. Van Maldergem

, J. Piard

, L. Larizza

, and L. L. Wang

DOI:
10.1093/med/9780199934522.003.0173
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 07 March 2021

Disease-causing mutations in RECQL4 have been associated with three apparently distinct clinical entities: Rothmund–Thomson syndrome (RTS, OMIM 268400), RAPADILINO syndrome (OMIM 266280) and Baller–Gerold syndrome (BGS, OMIM 218600). RECQL4 belongs to the highly conserved RecQ helicase family composed of five members in humans. It has an important role in genomic stability and functions at the interface of DNA replication and DNA repair. Mutations in two other human RecQ helicases, Werner (WRN) and Bloom (BLM) are implicated in the corresponding eponymic syndromes. All three syndromes are autosomal recessive and are associated with varying degrees of premature aging, skin and skeletal abnormalities, and cancer predisposition. They also have in common growth retardation, patellar hypo/aplasia, and infantile diarrhea. Poikilodermatous skin changes with a characteristic pattern are the hallmark of RTS and BGS. Radial ray defects are paramount features of BGS and RAPADILINO syndrome, although also observed in RTS. Craniosynostosis is a major diagnostic criterion for BGS. Overlapping in clinical features of these three syndromes seems compatible with the concept of a major “core” syndrome, RTS, the two rarer BGS and RAPADILINO syndromes representing endophenotypes. The specific function of RECQL4 and mechanisms by which it induces pleiotropic manifestations in these syndromes are largely unknown.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.