在一个患有 Pendred 综合征的近亲家族中鉴定出 PDS 基因的两种不同突变。
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
作者信息
Coucke P J, Van Hauwe P, Everett L A, Demirhan O, Kabakkaya Y, Dietrich N L, Smith R J, Coyle E, Reardon W, Trembath R, Willems P J, Green E D, Van Camp G
机构信息
Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, Antwerp, Belgium.
出版信息
J Med Genet. 1999 Jun;36(6):475-7.
Recently the gene responsible for Pendred syndrome (PDS) was isolated and several mutations in the PDS gene have been identified in Pendred patients. Here we report the occurrence of two different PDS mutations in an extended inbred Turkish family. The majority of patients in this family are homozygous for a splice site mutation (1143-2A-->G) affecting the 3' splice site consensus sequence of intron 7. However, two affected sibs with non-consanguineous parents are compound heterozygotes for the splice site mutation and a missense mutation (1558T-->G), substituting an evolutionarily conserved amino acid. The latter mutation has been found previously in two Pendred families originating from The Netherlands, indicating that the 1558T-->G mutation may be a common mutation.
最近，导致彭德莱德综合征（PDS）的基因被分离出来，并且在彭德莱德患者中已鉴定出PDS基因的几种突变。在此，我们报告在一个庞大的近交土耳其家族中出现了两种不同的PDS突变。该家族中的大多数患者对于影响内含子7的3'剪接位点共有序列的剪接位点突变（1143 - 2A→G）是纯合的。然而，两个父母非近亲的患病同胞是剪接位点突变和错义突变（1558T→G）的复合杂合子，该错义突变替代了一个进化上保守的氨基酸。后一种突变先前在源自荷兰的两个彭德莱德家族中被发现，表明1558T→G突变可能是一种常见突变。
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