Identification of DKC1 Gene Novel Mutations in Patient with X-Linked Dyskeratosis Congenita

先天性角化不全症(Dyskeratosis congenita, DKC)是一種罕見的多系統遺傳異常疾病。臨床上的表現為特有的三種病徵：異常的皮膚色素沈著、指甲萎縮變形及口腔黏膜白斑。骨髓衰竭為最主要的早期致死原因，此外患者也易罹患惡性腫瘤及致命的肺部併發症。絕大多數屬X染色體隱性性聯遺傳，此症候群主要是染色體Xq28上的DKC1基因突變後製造出功能異常的角化素(dyskerin)。這種蛋白質會造成染色體終端酶(telomerase)的不穩定及活性衰退。本文提出一位症狀典型，X染色體性聯遺傳先天性角化不全症之十歲男病童的病例報告，並就其DKC1基因之突變點作進一步分析探討。

關鍵字

先天性角化不全； DKC1基因；突變；口腔白斑

並列摘要

Dyskeratosis congenita (DKC) is a rare inherited multisystem disorder characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Bone marrow failure is the major cause of early mortality with additional predispositions to malignant disease and fatal pulmonary complications. The inheritance pattern is X-linked recessive in most cases, while autosomal dominant and autosomal recessive forms have also been documented. It is caused predominantly by missense mutations in the DKC1 gene mapped to chromosome Xq28. The dysfunction of DKC1 encoded protein, dyskerin, may lead to the destabilization and decreased activity of telomerase. We report a 10-year-old boy with typical features and diagnosed as X-linked DKC through gene analysis. The direct genomic sequencing of DKC1 gene showed a novel mutation of A to G in exon 11 nt 1,096 in both the proband and his mother. This missense mutation leads to a substitution from V to I at location 366.

並列關鍵字

dyskeratosis congenital ； DKC1 ； mutation ； oral leukoplakia

國際替代計量

Identification of DKC1 Gene Novel Mutations in Patient with X-Linked Dyskeratosis Congenita

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