Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients

被引：1

作者：

Srivastava, Kshitij ^{[1
]}

Hu, Ping ^{[1
]}

Solomon, Benjamin D. ^{[1
]}

Ming, Jeffrey E. ^{[2
]}

Roessler, Erich ^{[1
]}

Muenke, Maximilian ^{[1
]}

机构：

[1] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[2] Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2012年 / 106卷 / 02期

基金：

美国国家卫生研究院;

关键词：

Holoprosencephaly (HPE); Noggin (NOG); Forebrain; Mutation; Modifier; FOREBRAIN DEVELOPMENT; ANTAGONISM; MOUSE; MICE; BMP; SYMPHALANGISM; PATHOGENESIS; MUTATIONS; MICROFORM; ORGANIZER;

D O I：

10.1016/j.ymgme.2012.03.008

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Holoprosencephaly (HPE) is the most common structural anomaly of the human forebrain. Various genetic and teratogenic causes have been implicated in its pathogenesis. A recent report in mice described Noggin (NOG) as a candidate gene involved in the etiogenesis of microform HPE. Here, we present for the first time genetic analysis of a large HPE cohort for sequence variations in NOG. On the basis of our study, we conclude that mutations in the coding region of NOG are rare, and play at most an uncommon role in human HPE. Published by Elsevier Inc.

引用

页码：241 / 243

页数：3

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