Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome
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DOI：
10.1111/j.1399-0004.2007.00936.x
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发表时间：
2008-02-01
影响因子：
3.5
通讯作者：
Cruces, J.
中科院分区：
文献类型：
--
作者：
Cotarelo, R. P.;Valero, M. C.;Cruces, J.
Walker-Warburg 综合征 (WWS) 是一种常染色体隐性遗传疾病，其特征是先天性肌营养不良、脑畸形和眼睛结构异常。我们研究了两名非近亲父母所生的 WWS 患者，在这两名患者中，我们都发现了导致这种综合征的 fukutin 基因突变。其中一名患者携带产生移码的纯合单核苷酸插入，这是首次在纯合性中描述这种插入并导致 WWS 表型。另一名患者携带两种新突变，一种是产生氨基酸取代的点突变，另一种是影响 fukutin 基因多腺苷酸化信号的 3'UTR 缺失。这种删除可能会导致该等位基因的 fukutin 转录本完全丢失。这是首次将位于 fukutin 编码区之外的突变确定为 WWS 的原因。
Walker-Warburg syndrome (WWS) is an autosomal recessive disorder characterized by congenital muscular dystrophy, brain malformations and structural abnormalities of the eye. We have studied two WWS patients born to non-consanguineous parents, and in both cases, we identified mutations in the fukutin gene responsible for this syndrome. One of the patients carries a homozygous-single nucleotide insertion that produces a frameshift, being this the first time that this insertion has been described in homozygosis and causing a WWS phenotype. The other patient carries two novel mutations, one being a point mutation that produces an amino acid substitution, while the other is a deletion in the 3'UTR that affects the polyadenylation signal of the fukutin gene. This deletion would probably result in the complete loss of the fukutin transcripts from this allele. This is the first time a mutation localized outside of the fukutin coding region has been identified as a cause of WWS.