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在一个患有房间隔缺损的日本家族中通过全外显子组测序鉴定出的变异：对男性性发育的影响。

variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development.

作者信息

Shimizu Daisuke, Iwashima Satoru, Sato Keisuke, Hayano Satoshi, Fukami Maki, Saitsu Hirotomo, Ogata Tsutomu

机构信息

Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan.

Department of Pediatrics Chutoen General Medical Center Kakegawa Japan.

出版信息

Clin Case Rep. 2018 Oct 11;6(11):2229-2233. doi: 10.1002/ccr3.1851. eCollection 2018 Nov.

DOI:10.1002/ccr3.1851
PMID:30455927
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6230668/
Abstract

We identified a heterozygous p.(R284H) variant of in a Japanese family with atrial septal defect, including boys with apparently normal male sex development. The findings, together with the previous data, imply that variants primarily cause congenital heart disease and rarely result in 46,XY disorder of sex development.

摘要

我们在一个患有房间隔缺损的日本家庭中鉴定出一种杂合的p.(R284H)变异，其中包括男性性发育明显正常的男孩。这些发现与先前的数据一起表明，该变异主要导致先天性心脏病，很少导致46,XY性发育障碍。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7376/6230668/92bb9947bd1d/CCR3-6-2229-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7376/6230668/a05830b9684e/CCR3-6-2229-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7376/6230668/92bb9947bd1d/CCR3-6-2229-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7376/6230668/a05830b9684e/CCR3-6-2229-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7376/6230668/92bb9947bd1d/CCR3-6-2229-g002.jpg

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本文引用的文献

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J Hum Genet. 2018 Feb;63(2):213-230. doi: 10.1038/s10038-017-0347-1. Epub 2017 Dec 1.
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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.性发育障碍：来自大型国际患者队列靶向基因测序的见解
Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y.
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Analysis of protein-coding genetic variation in 60,706 humans.
对60706名人类的蛋白质编码基因变异进行分析。
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J Hum Genet. 2016 Jun;61(6):547-53. doi: 10.1038/jhg.2016.12. Epub 2016 Feb 25.
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Loss of Gata4 in Sertoli cells impairs the spermatogonial stem cell niche and causes germ cell exhaustion by attenuating chemokine signaling.支持细胞中Gata4的缺失会损害精原干细胞微环境，并通过减弱趋化因子信号传导导致生殖细胞耗竭。
Oncotarget. 2015 Nov 10;6(35):37012-27. doi: 10.18632/oncotarget.6115.
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A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.对先天性心脏缺陷家族病例进行的系统变异筛查证明了分子遗传学在该领域的实用性。
Eur J Hum Genet. 2016 Feb;24(2):228-36. doi: 10.1038/ejhg.2015.105. Epub 2015 May 27.
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