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中间型常染色体隐性骨硬化症中的新型复合杂合突变。

Novel compound heterozygous mutations in intermediate autosomal recessive osteopetrosis.

作者信息

Okamoto Nana, Kohmoto Tomohiro, Naruto Takuya, Masuda Kiyoshi, Komori Takahide, Imoto Issei

机构信息

Department of Oral and Maxillofacial Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.

Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

出版信息

Hum Genome Var. 2017 Aug 17;4:17036. doi: 10.1038/hgv.2017.36. eCollection 2017.

DOI:10.1038/hgv.2017.36
PMID:28819563
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5559424/
Abstract

Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis.

摘要

骨硬化症是一种遗传性骨骼疾病，其特征是在X线片上由于破骨细胞形成和功能缺陷导致骨密度增加。在人类中，超过10个基因的突变被确定为这种临床和基因异质性疾病的病因。我们报告了一名15岁日本女性中间型常染色体隐性骨硬化症患者，通过靶向外显子组测序检测到该基因存在两种新的错义变异，呈复合杂合状态。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/149b/5559424/c3476c7b16b0/hgv201736-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/149b/5559424/82aa041a0565/hgv201736-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/149b/5559424/c3476c7b16b0/hgv201736-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/149b/5559424/82aa041a0565/hgv201736-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/149b/5559424/c3476c7b16b0/hgv201736-f2.jpg

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本文引用的文献

1
Detection of 1p36 deletion by clinical exome-first diagnostic approach.采用临床外显子优先诊断方法检测1p36缺失。
Hum Genome Var. 2016 May 12;3:16006. doi: 10.1038/hgv.2016.6. eCollection 2016.
2
A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.一名患有埃勒斯-当洛综合征患者的COL5A2基因发生了一种新的错义突变。
Hum Genome Var. 2016 Sep 15;3:16030. doi: 10.1038/hgv.2016.30. eCollection 2016.
3
A novel PTCH1 mutation in a patient with Gorlin syndrome.一名戈林综合征患者中发现的一种新的PTCH1突变。
亚洲印度人中骨硬化症和致密性骨发育不全的重叠表型。
Case Rep Genet. 2021 Nov 3;2021:7133508. doi: 10.1155/2021/7133508. eCollection 2021.
4
Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.全外显子组测序在一个巴基斯坦家庭中发现，CLCN7基因同一密码子上有两个新的纯合错义变体，这是常染色体隐性遗传婴儿恶性骨硬化症的病因。
Mol Biol Rep. 2018 Aug;45(4):565-570. doi: 10.1007/s11033-018-4194-8. Epub 2018 Jun 20.
5
Genetic Analysis of Rare Human Variants of Regulators of G Protein Signaling Proteins and Their Role in Human Physiology and Disease.调节 G 蛋白信号转导蛋白的罕见人类变异体的遗传分析及其在人类生理学和疾病中的作用。
Pharmacol Rev. 2018 Jul;70(3):446-474. doi: 10.1124/pr.117.015354.
6
Genetics of Osteopetrosis.成骨不全症的遗传学。
Curr Osteoporos Rep. 2018 Feb;16(1):13-25. doi: 10.1007/s11914-018-0415-2.
Hum Genome Var. 2014 Nov 13;1:14022. doi: 10.1038/hgv.2014.22. eCollection 2014.
4
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.CLCN7基因的新型突变在中国患者中导致常染色体显性II型骨硬化症（ADO-II）和中间型常染色体隐性骨硬化症（IARO）。
Osteoporos Int. 2016 Mar;27(3):1047-1055. doi: 10.1007/s00198-015-3320-x. Epub 2015 Sep 22.
5
Osteopetrosis: genetics, treatment and new insights into osteoclast function.骨硬化症：遗传学、治疗方法及破骨细胞功能的新见解。
Nat Rev Endocrinol. 2013 Sep;9(9):522-36. doi: 10.1038/nrendo.2013.137. Epub 2013 Jul 23.
6
Osteopetrosis.骨质石化症
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Nosology and classification of genetic skeletal disorders: 2006 revision.遗传性骨骼疾病的疾病分类学与分类：2006年修订版
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A clinical and molecular overview of the human osteopetroses.人类骨质石化症的临床与分子概述
Calcif Tissue Int. 2005 Nov;77(5):263-74. doi: 10.1007/s00223-005-0027-6. Epub 2005 Nov 16.
9
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.中间型常染色体隐性骨硬化症中的氯离子通道7（CLCN7）基因突变
Hum Genet. 2003 Feb;112(2):186-9. doi: 10.1007/s00439-002-0861-9. Epub 2002 Nov 7.
10
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.阿尔伯斯-尚伯格病（常染色体显性遗传性骨硬化症II型）由ClCN7氯通道基因突变引起。
Hum Mol Genet. 2001 Dec 1;10(25):2861-7. doi: 10.1093/hmg/10.25.2861.