A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis

被引：13

作者：

Calvel, Pierre ^{[1
,2
]}

Kusz-Zamelczyk, Kamila ^{[3
]}

Makrythanasis, Periklis ^{[1
,2
]}

Janecki, Damian ^{[3
]}

Borel, Christelle ^{[1
,2
]}

Conne, Beatrice ^{[1
,2
]}

Vannier, Anne ^{[1
,2
]}

Bena, Frederique ^{[1
,2
]}

Gimelli, Stefania ^{[1
,2
]}

Fichna, Piotr ^{[4
]}

Antonarakis, Stylianos E. ^{[1
,2
]}

Nef, Serge ^{[1
,2
]}

Jaruzelska, Jadwiga ^{[3
]}

机构：

[1] Univ Geneva, Sch Med, Dept Genet Med & Dev, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland

[2] Univ Geneva, Inst Genet & Genom Geneva, iGE3, CH-1211 Geneva 4, Switzerland

[3] Polish Acad Sci, Inst Human Genet, PL-60479 Poznan, Poland

[4] Poznan Univ Med Sci, Dept Pediat Diabet & Obes, Poznan, Poland

来源：

SEXUAL DEVELOPMENT | 2015年 / 9卷 / 05期

基金：

瑞士国家科学基金会;

关键词：

Disorders of gonadal development; Sex determination; Wiedemann-Steiner syndrome; DE-NOVO; MUTATIONS; IDENTIFICATION; VARIANTS; DELETION; ZNF674;

D O I：

10.1159/000441512

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

We report the case of a female patient suffering from a 46,XY disorder of sexual development (DSD) with complete gonadal dysgenesis and Wiedemann-Steiner Syndrome (WDSTS). The coexistence of these 2 conditions has not yet been reported. Using whole exome sequencing and comparative genome hybridization array, we identified a de novo MLL/KMT2A gene nonsense mutation which explains the WDSTS phenotype. In addition, we discovered novel genetic variants, which could explain the testicular dysgenesis observed in the patient, a maternally inherited 167-kb duplication of DAAM2 and MOCS1 genes and a de novo LRRC33/NRROS gene mutation. These genes, some of which are expressed during mouse gonadal development, could be considered as potentially new candidate genes for DSD. (C) 2015 S. Karger AG, Basel

引用

页码：289 / 295

页数：7

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