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Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams–Oliver syndrome and ARHGAP31 mutations
Author(s) -
Isrie Mala,
Wuyts Wim,
Van Esch Hilde,
Devriendt Koenraad
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36486
Subject(s) - penetrance , mutation , genetics , phenotype , reduction (mathematics) , terminal (telecommunication) , biology , medicine , gene , computer science , geometry , mathematics , telecommunications
Adams–Oliver syndrome (AOS; OMIM 100300) typically comprises a combination of congenital scalp defects and terminal transverse limb defects. Recently, mutations in ARHGAP31 and RBPJ have been found causing autosomal dominant forms of AOS. We describe a four‐generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31 . This finding underscores the relevance of sequencing ARHGAP31 in similar cases of isolated limb defects, irrespective of the presence of a complete AOS phenotype. We also highlight the variability of clinical features among mutation carriers, ranging from severe reduction defects to mild as well as clinically unaffected cases suggesting reduced penetrance. © 2014 Wiley Periodicals, Inc.