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首页> 外文期刊>Molecular syndromology >A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg Syndrome
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A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg Syndrome

机译：沙瓦瓦登堡综合征的摩洛哥家庭中内皮素B受体基因的新型突变。

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摘要

Waardenburg syndrome (WS) is a neurocristopathy disorder combining sensorineural deafness and pigmentary abnormalities. The presence of additional signs defines the 4 subtypes. WS type IV, also called Shah-Waardenburg syndrome (SWS), is characterized by the association with congenital aganglionic megacolon (Hirschsprung disease). To date, 3 causative genes have been related to this congenital disorder. Mutations in the EDNRB and EDN3 genes are responsible for the autosomal recessive form of SWS, whereas SOX10 mutations are inherited in an autosomal dominant manner. We report here the case of a 3-month-old Morrocan girl with WS type IV, born to consanguineous parents. The patient had 3 cousins who died in infancy with the same symptoms. Molecular analysis by Sanger sequencing revealed the presence of a novel homozygous missense mutation c.1133A>G (p.Asn378Ser) in the EDNRB gene. The proband's parents as well as the parents of the deceased cousins are heterozygous carriers of this likely pathogenic mutation. This molecular diagnosis allows us to provide genetic counseling to the family and eventually propose prenatal diagnosis to prevent recurrence of the disease in subsequent pregnancies.
机译：Waardenburg综合征（WS）是一种神经性脑病，合并了感音神经性耳聋和色素异常。其他符号的出现定义了4个亚型。 WS IV型，也称为Shah-Waardenburg综合征（SWS），其特征是与先天性神经节性巨结肠（Hirschsprung病）有关。迄今为止，已有3种致病基因与该先天性疾病有关。 EDNRB和EDN3基因中的突变负责SWS的常染色体隐性形式，而SOX10突变以常染色体显性方式遗传。我们在这里报告了一个3个月大的WS型IV的Morrocan女孩的案例，该女孩出生于近亲父母。该患者有3个表亲，他们在婴儿期死亡且症状相同。通过Sanger测序进行的分子分析揭示了EDNRB基因中存在一个新的纯合错义突变c.1133A> G（p.Asn378Ser）。先证者的父母以及已故表亲的父母都是这种可能的致病突变的杂合子携带者。这种分子诊断使我们能够为家庭提供遗传咨询，并最终提出产前诊断，以防止该疾病在随后的怀孕中复发。

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