一个新的错义突变在基因 FZD6 导致常染色体隐性指甲发育不良。
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia.
机构信息
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
出版信息
Br J Dermatol. 2013 Feb;168(2):422-5. doi: 10.1111/j.1365-2133.2012.11203.x. Epub 2012 Oct 5.
BACKGROUND
Inherited isolated nail anomaly manifesting with onychauxis and onycholysis is a rare condition, caused by mutations in the gene FZD6, encoding membrane-bound Wnt receptor protein.
OBJECTIVES
To search for sequence variants in the gene FZD6 in three individuals of a consanguineous family exhibiting features of nail dysplasia.
METHODS
Linkage in the family was searched by genotyping microsatellite markers linked to the gene FZD6, mapped at chromosome 8q22.3. Exons and splice junction sites of the gene FZD6 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer.
RESULTS
DNA sequence analysis revealed a novel homozygous missense mutation (c.1266G>A; p.Gly422Asp) located in the transmembrane domain of the protein FZD6.
CONCLUSIONS
The missense mutation (p.Gly422Asp), identified here, is only the third mutation detected in the gene FZD6.
背景
表现为甲弯曲和甲分离的遗传性孤立性甲异常是一种罕见的疾病，由编码膜结合 Wnt 受体蛋白的 FZD6 基因突变引起。
目的
在表现出指甲发育不良特征的三个血缘关系密切的家族成员中，寻找 FZD6 基因的序列变异。
方法
通过基因分型微卫星标记，在染色体 8q22.3 上与 FZD6 基因连锁，在家族中搜索连锁。FZD6 基因的外显子和剪接连接点在自动 DNA 测序仪中进行聚合酶链反应扩增和测序。
结果
DNA 序列分析显示一种新的纯合错义突变（c.1266G>A；p.Gly422Asp）位于蛋白 FZD6 的跨膜结构域。
结论
在此鉴定的错义突变（p.Gly422Asp）是 FZD6 基因中检测到的第三个突变。
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