Identification of a novel SRY-mutation causing 46,XY complete gonadal dysgenesis in two half-sisters by paternal gonadal mosaicism

被引：0
|
作者：
Filges, Isabel [2 ]
Boesch, Nemya [2 ]
Tschudin, Sibil [3 ]
Wenzel, Friedel [2 ]
Miny, Peter [2 ]
Zumsteg, Urs [1 ]
Heinimann, Karl [2 ]
机构：
[1] Univ Childrens Hosp, Div Pediat Endocrinol, Basel, Switzerland
[2] Dept Biomed, Div Med Genet, Basel, Switzerland
[3] Univ Hosp, Dept Obstet & Gynecol, Basel, Switzerland
来源：
SWISS MEDICAL WEEKLY | 2009年 / 139卷 / 21-22期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：24S / 24S
页数：1
相关论文
共 50 条
  • [31] A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy
    Umehara, F
    Tate, G
    Itoh, K
    Yamaguchi, N
    Douchi, T
    Mitsuya, T
    Osame, M
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (05) : 1302 - 1305
  • [32] A novel WT1 gene mutation in a patient with Wilms’ tumor and 46, XY gonadal dysgenesis
    Dong-Gi Lee
    Deok Hyun Han
    Kwan Hyun Park
    Minki Baek
    [J]. European Journal of Pediatrics, 2011, 170 : 1079 - 1082
  • [33] Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review
    Baldinotti, Fulvia
    Cavallaro, Tiziana
    Dati, Eleonora
    Baroncelli, Giampiero I.
    Bertini, Veronica
    Valetto, Angelo
    Massart, Francesco
    Fabrizi, Gian Maria
    Zanette, Giampietro
    Peroni, Diego
    Bertelloni, Silvano
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2018, 89 (03): : 141 - 149
  • [34] A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis
    Filges, Isabel
    Kunz, Christophe
    Miny, Peter
    Boesch, Nemya
    Szinnai, Gabor
    Wenzel, Friedel
    Tschudin, Sibil
    Zumsteg, Urs
    Heinimann, Karl
    [J]. FERTILITY AND STERILITY, 2011, 96 (04) : 851 - U299
  • [35] A Novel Missense Mutation 224G> T ( R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis
    Fan, Wufang
    Wang, Bei
    He, Shanshan
    Zhang, Tengfei
    Yin, Chenxing
    Chen, Yunping
    Zheng, Shuqi
    Zhang, Jixia
    Li, Lin
    [J]. PLOS ONE, 2016, 11 (12):
  • [36] Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype
    Paliwal, Preeti
    Sharma, Anshul
    Birla, Shweta
    Kriplani, Alka
    Khadgawat, Rajesh
    Sharma, Arundhati
    [J]. MOLECULAR HUMAN REPRODUCTION, 2011, 17 (06) : 372 - 378
  • [37] Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis
    Xue, Mei
    Wang, Xiang
    Li, Cui
    Zhao, Minggang
    He, Fang
    Li, Xu
    [J]. GENE, 2019, 718
  • [38] A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome
    Ilaslan, Erkut
    Calvel, Pierre
    Nowak, Dominika
    Szarras-Czapnik, Maria
    Slowikowska-Hilczer, Jolanta
    Spik, Anna
    Sararols, Pauline
    Nef, Serge
    Jaruzelska, Jadwiga
    Kusz-Zamelczyk, Kamila
    [J]. SEXUAL DEVELOPMENT, 2018, 12 (04) : 191 - 195
  • [39] A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene
    Xu, Ke
    Su, Na
    Zhang, Hong
    Zhu, Jingxin
    Cheng, Xinran
    [J]. TRANSLATIONAL PEDIATRICS, 2020, 9 (06) : 867 - 872
  • [40] SF1 gene mutation is a frequent cause of 46, XY complete gonadal dysgenesis: Identification of five new mutations among 22 XY sex reversed girls
    Philibert, Pascal
    Audran, Francoise
    Houang, Muriel
    Molini, Veruska
    Frances, Anne-Marie
    Tarral, Eliane
    Lisa, Lidka
    Damiani, Durvai
    Paris, Francoise
    Sultan, Charles
    [J]. HORMONE RESEARCH, 2008, 70 : 39 - 39
12345