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A novel frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism.

作者信息

Kimura-Yoshida Ayano, Sato Takeshi, Ichihashi Yosuke, Wasa Masanori, Narumi Satoshi, Ishii Tomohiro, Hasegawa Tomonobu

机构信息

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Division of Neonatal Intensive Care, Tokyo Women's Medical University, Adachi Medical Center, Tokyo, Japan.

出版信息

Clin Pediatr Endocrinol. 2024 Oct;33(4):244-248. doi: 10.1297/cpe.2024-0013. Epub 2024 Aug 19.

DOI:10.1297/cpe.2024-0013
PMID:39359665
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11442697/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f521/11442697/cdb2d3e0f068/cpe-33-244-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f521/11442697/cdb2d3e0f068/cpe-33-244-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f521/11442697/cdb2d3e0f068/cpe-33-244-g001.jpg

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本文引用的文献

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2
Sex Differences in Reproductive Hormones During Mini-Puberty in Infants With Normal and Disordered Sex Development.正常和性发育障碍婴儿迷你青春期生殖激素的性别差异。
J Clin Endocrinol Metab. 2018 Aug 1;103(8):3028-3037. doi: 10.1210/jc.2018-00482.
3
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
4
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.9例SOX2异常患者的突变谱及表型变异
J Hum Genet. 2014 Jun;59(6):353-6. doi: 10.1038/jhg.2014.34. Epub 2014 May 8.
5
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Gene. 2014 Jan 25;534(2):282-5. doi: 10.1016/j.gene.2013.10.043. Epub 2013 Nov 6.
6
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.伴 SOX2 突变的孤立性促性腺激素低下型性腺功能减退症及患儿无眼/小眼畸形。
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