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

Mala Isrie, Wim Wuyts, Hilde Van Esch, Koenraad Devriendt*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1576-1579
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number6
DOIs
Publication statusPublished - 1 Jan 2014
Externally publishedYes

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