Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome
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DOI：
10.1089/gtmb.2019.0071
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发表时间：
2019-10-01
影响因子：
1.4
通讯作者：
Ahmad, Wasim
中科院分区：
文献类型：
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作者：
Abdullah;Yousaf, Maryam;Ahmad, Wasim
背景：Greig头多并指综合征（GCPS）是一种自足和颅面畸形的疾病。自足畸形包括轴前和/或轴后多指（趾）畸形伴或不伴并指（趾）畸形，而颅面特征包括间距过宽和大头畸形。GCPS以常染色体显性方式遗传，由GLI 3中的序列变异引起。方法和结果：在这项研究中，我们检查了四个不相关的家庭与GCPS分离的常染色体显性遗传方式。桑格测序显示GLI 3中有三个新的（p.Tyr146Leufs*19、p.Glu99Serfs*60和p.Thr541Arg）和一个先前报道的无义变体（p.Arg792*）。结论：该研究扩大了与GCPS相关的GLI 3基因变异的范围，也应该有助于巴基斯坦人群中GCPS患者的遗传咨询。
Background: Greig cephalopolysyndactyly syndrome (GCPS) is a disorder of autopod and craniofacial abnormalities. Autopod anomalies include preaxial and/or postaxial polydactyly together with or without syndactyly while craniofacial features include hypertelorism and macrocephaly. GCPS is inherited in an autosomal dominant manner and is caused by sequence variants in GLI3. Methodology and Results: In this study, we examined four unrelated families with GCPS segregating in an autosomal dominant manner. Sanger sequencing revealed three novel (p.Tyr146Leufs*19, p.Glu99Serfs*60, and p.Thr541Arg) and one previously reported non-sense variant (p.Arg792*) in GLI3. Conclusion: The study expands the spectrum of the variants in the GLI3 gene linked to GCPS, and should also facilitate genetic counseling of GCPS patients in the Pakistani population.