Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

被引：40

作者：

Brady, P. D. ^{[1
]}

Moerman, Philippe ^{[2
]}

De Catte, Luc ^{[3
,4
]}

Deprest, J. ^{[3
,4
]}

Devriendt, K. ^{[1
]}

Vermeesch, J. R. ^{[1
]}

机构：

[1] Katholieke Univ Leuven, Univ Hosp Leuven, Ctr Human Genet, B-3000 Louvain, Belgium

[2] Katholieke Univ Leuven, Univ Hosp Leuven, Dept Imaging & Pathol, Translat Cell & Tissue Res Unit, B-3000 Louvain, Belgium

[3] Katholieke Univ Leuven, Univ Hosp Leuven, Dept Dev & Regenerat, Unit Pregnancy Foetus & Newborn, B-3000 Louvain, Belgium

[4] Univ Hosp Leuven, Dept Obstet & Gynaecol, Leuven, Belgium

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2014年 / 57卷 / 09期

关键词：

Exome sequencing; PIGN; Congenital Diaphragmatic Hernia; CDH; GPI anchor; MENTAL-RETARDATION SYNDROME; GPI-ANCHOR-SYNTHESIS; FRYNS-SYNDROME; GLYCOSYLPHOSPHATIDYLINOSITOL; GENE; HYPERPHOSPHATASIA; ANNOTATION; DEFICIENCY; PHENOTYPE; ANOMALIES;

D O I：

10.1016/j.ejmg.2014.05.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Using exome sequencing we identify a homozygous splice site mutation in the PIGN gene in a foetus with multiple congenital anomalies including bilateral diaphragmatic hernia, cardiovascular anomalies, segmental renal dysplasia, facial dysmorphism, cleft palate, and oligodactyly. This finding expands the phenotypic spectrum associated with homozygous loss of function mutations in PIGN, and adds further support for defective GPI anchor biosynthesis as a cause of developmental abnormalities. We demonstrate that exome sequencing is a valuable approach for the identification of a genetic cause in sporadic cases of multiple congenital anomalies (MCA) due to inherited mutations. (C) 2014 Elsevier Masson SAS. All rights reserved.

引用

页码：487 / 493

页数：7

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