The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis

被引：21

作者：

Shamriz, O. ^{[1
]}

Shaag, A. ^{[2
]}

Yaacov, B. ^{[2
]}

NaserEddin, A. ^{[1
]}

Weintraub, M. ^{[3
]}

Elpeleg, O. ^{[2
]}

Stepensky, P. ^{[3
]}

机构：

[1] Hadassah Hebrew Univ, Div Pediat, Med Ctr, Jerusalem, Israel

[2] Hadassah Hebrew Univ, Monique & Jacques Roboh Dept Genet Res, Med Ctr, Jerusalem, Israel

[3] Hadassah Hebrew Univ, Dept Pediat Hematol Oncol & Bone Marrow Transplan, Med Ctr, POB 12000, IL-91120 Jerusalem, Israel

来源：

CLINICAL GENETICS | 2017年 / 92卷 / 01期

关键词：

genetic research; osteoclasts; osteopetrosis; whole exome sequencing; MUTATIONS; DISORDERS; GENETICS; INFANCY;

D O I：

10.1111/cge.12804

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autosomal recessive malignant infantile osteopetrosis is a congenital disease characterized by pathologically increased bone density. Recently, the use of whole exome sequencing has been utilized as a clinical diagnostic tool in a number of Mendelian disorders. In this study, whole exome sequencing (WES) was successfully used in six patients with malignant infantile osteopetrosis (MIOP) and identified mutations in fourMIOP-related genes (CLCN7, TCIRG1, SNX10, and TNFRSF11A). We report these patients, describe the mutations and review the current literature.

引用

页码：80 / 85

页数：6

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