Premature Ovarian Failure Caused by a Heterozygous Missense Mutation in POF1B and a Reciprocal Translocation 46,X,t(X;3)(q21.1;q21.3)

被引：9

作者：

Ledig, Susanne ^{[1
]}

Preisler-Adams, Sabine ^{[1
]}

Morlot, Susanne ^{[2
]}

Liehr, Thomas ^{[3
]}

Wieacker, Peter ^{[1
]}

机构：

[1] Univ Hosp Munster, Inst Human Genet, Munster, Germany

[2] Hannover Med Sch, Inst Cell & Mol Pathol, Hannover, Germany

[3] Univ Hosp Jena, Inst Human Genet, Jena, Germany

来源：

SEXUAL DEVELOPMENT | 2015年 / 9卷 / 02期

关键词：

Missense mutation; POF1B; Premature ovarian failure; Reciprocal translocation; X-CHROMOSOME-INACTIVATION; AUTOSOME TRANSLOCATIONS; LINKED GENES; FEMALES; FISH; PATTERNS; DELETION; PATIENT; REGION;

D O I：

10.1159/000373906

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

In a patient affected by premature ovarian failure, a reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense mutation in the X-linked gene POF1B were detected. Homozygosity for POF1B mutations is well-known to be associated with premature ovarian failure. In this case, the rare combination of skewed X inactivation due to the reciprocal translocation involving one X chromosome and heterozygosity for a known POF1B mutation explains the phenotype. (C) 2015 S. Karger AG, Basel

引用

页码：86 / 90

页数：5

共 11 条

[1] Uterine tumor resembling ovarian sex cord tumor: Report of a case with t(X;6)(p22.3;q23.1) and t(4;18)(q21.1;q21.3)
Wang, JZ
Blakey, GL
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Li, SB
DIAGNOSTIC MOLECULAR PATHOLOGY, 2003, 12 (03) : 174 - 180
[2] Translocation t(X;11)(q22;q25) in a Woman with Premature Ovarian Failure
Saranya, B.
Devi, D. Kavitha
Chandra, R. S.
Jayashankar, M.
Santhiya, S. T.
SEXUAL DEVELOPMENT, 2013, 7 (04) : 216 - 221
[3] BCORL1, USP9x and POF1B copy number variation in premature ovarian failure: A Preliminary study
Furtado, C.
Gennaro, F.
Kogure, G.
Ferriani, R.
Reis, R.
HUMAN REPRODUCTION, 2020, 35 : I369 - I370
[4] Premature Ovarian Failure, Absence of Pubic and Axillary Hair With De Novo 46,X,t(X;15)(q24;q26.3)
Giacomozzi, Claudio
Gullotta, Francesca
Federico, Giovanni
Colapietro, Isabella
Nardone, Anna Maria
Cianfarani, Stefano
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (05) : 1305 - 1309
[5] Balanced reciprocal X-1 translocation (46,X,t(X;1)(q22;p32) and primary amenorrhea
Duhan, Nirmala
Malik, Roopa
Upadhyaya, Manisha
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2014, 181 : 338 - 339
[6] A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)
Jun-Kun Chen
Ping Liu
Li-Qin Hu
Qing Xie
Quan-Fei Huang
Hai-Liang Liu
Molecular Cytogenetics, 11
[7] A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)
Chen, Jun-Kun
Liu, Ping
Hu, Li-Qin
Xie, Qing
Huang, Quan-Fei
Liu, Hai-Liang
MOLECULAR CYTOGENETICS, 2018, 11
[8] The association of primary hyperparathyroidism and primary ovarian failure:: a de novo t(X; 2) (q22p13) reciprocal translocation
Bano, Gul
Mansour, Sahar
Nussey, Stephen
EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2008, 158 (02) : 261 - 263
[9] BPES With Atypical Premature Ovarian Insufficiency, and Evidence of Mitotic Recombination, in a Woman With Trisomy X and a Translocation t(3;11)(q22.3;q14.1)
Schlade-Bartusiak, Kamilla
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Gillan, Tanya
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McGillivray, Barbara
Eydoux, Patrice
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (09) : 2322 - 2327
[10] A case of 46,X,Der(X)t(X;X)(q22.1;p11) Xq22.1→Xqter in a 12-year-old girl with premature ovarian failure
Merhi, Z. O.
Roberts, J. L.
Awonuga, A. O.
GYNECOLOGIC AND OBSTETRIC INVESTIGATION, 2007, 63 (03) : 137 - 139

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