Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams–Oliver syndrome and  ARHGAP31  mutations | Zendy

Isrie Mala | Zendy; Wuyts Wim | Zendy; Van Esch Hilde | Zendy; Devriendt Koenraad | Zendy

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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.

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