Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams–Oliver syndrome and ARHGAP31 mutations. Issue 6 (25th March 2014)

• Record Type: Journal Article
• Authors: Isrie, Mala; Wuyts, Wim; Van Esch, Hilde; Devriendt, Koenraad
• Is Part Of: American journal of medical genetics. Volume 164:Issue 6(2014.)
• Page Start: 1576
• Page End: 1579
• Publication Date: 2014-03-25
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36486
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36486-sec-0001" sec-type="section"> <p>Adams–Oliver syndrome (AOS; OMIM 100300) typically comprises a combination of congenital scalp defects and terminal transverse limb defects. Recently, mutations in <italic>ARHGAP31</italic> and <italic>RBPJ</italic> 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 <italic>ARHGAP31</italic>. This finding underscores the relevance of sequencing <italic>ARHGAP31</italic> 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.</p> </sec> </abstract>