Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect

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• 作者：Bochra Ben Rhouma^a ; ^{bochra.benrhouma@gmail.com} ; Fakhri Kallabi^a ; Nadia Mahfoudh^b ; Afif Ben Mahmoud^a ; Roger T. Engeli^c ; Hassen Kamoun^d ; Leila Keskes^a ; Alex Odermatt^c ; ^{alex.odermatt@unibas.ch} ; Neila Belguith^a ; ^d
• 关键词：46 ; XY disorders of sex development ; 17beta-hydroxysteroid dehydrogenase ; Mutation ; HSD17B3 ; Founder effect ; Male sexual development
• 刊名：The Journal of Steroid Biochemistry and Molecular Biology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：165
• 期：part_PA
• 页码：86-94
• 全文大小：1680 K
• 卷排序：165

文摘

We describe novel mutations in the HSD17B3 gene causing 46, XY DSD in the Tunisian population. We show that carriers of the p.C206X mutation harbor the same haplotype and provide evidence that the mutation was inherited from a common ancestor. We found a carrier frequency of approximately 1 in 40 in randomly selected individuals from the region of Sfax, Tunisia. This mutation should be considered in the diagnosis and genetic counseling of affected 17β-HSD3 deficiency pedigrees in Tunisia.