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

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2014-06, Vol.164A (6), p.1576-1579
Main Authors: Isrie, Mala, Wuyts, Wim, Van Esch, Hilde, Devriendt, Koenraad
Format: Article
Language:English
Subjects:
Adams-Oliver
ARHGAP31
autosomal dominant
Ectodermal Dysplasia - genetics
Family
Female
GTPase-Activating Proteins - genetics
Humans
Immunoglobulin J Recombination Signal Sequence-Binding Protein - genetics
Limb Deformities, Congenital - genetics
limb reduction
Male
Mutation
Pedigree
Phenotype
Phosphoproteins - genetics
Scalp - abnormalities
Scalp Dermatoses - congenital
Scalp Dermatoses - genetics
Sequence Analysis, DNA
transverse terminal limb defect
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36486