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RECQL4-Related Recessive Conditions 

RECQL4-Related Recessive Conditions
RECQL4-Related Recessive Conditions

L. Van Maldergem

, J. Piard

, L. Larizza

, and L. L. Wang

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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.

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