Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations
Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations
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DOI：
10.1002/ajmg.a.36486
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发表时间：
2014-06-01
影响因子：
2
通讯作者：
Devriendt, Koenraad
中科院分区：
文献类型：
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作者：
Isrie, Mala;Wuyts, Wim;Devriendt, Koenraad
Adams-Oliver 综合征（AOS；OMIM 100300）通常由先天性头皮缺陷和末端横向肢体缺陷组合而成。最近，发现 ARHGAP31 和 RBPJ 的突变会导致常染色体显性遗传形式的 AOS。我们描述了一个四代谱系，具有孤立的末端肢体缺陷和 ARHGAP31 截短突变。这一发现强调了在类似的孤立性肢体缺陷病例中进行 ARHGAP31 测序的相关性，无论是否存在完整的 AOS 表型。我们还强调了突变携带者临床特征的变异性，从严重的减少缺陷到轻度以及临床上未受影响的病例，表明外显率降低。 (c) 2014 年 Wiley 期刊公司。
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. (c) 2014 Wiley Periodicals, Inc.