Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

Autor: Brady PD; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Belgium., Moerman P; Translational Cell & Tissue Research Unit, Department of Imaging and Pathology, KU Leuven, University Hospital Leuven, Belgium., De Catte L; Department of Development and Regeneration, Unit Pregnancy, Foetus and Newborn, KU Leuven, University Hospital Leuven, Belgium; Department Obstetrics and Gynaecology, University Hospital Leuven, Belgium., Deprest J; Department of Development and Regeneration, Unit Pregnancy, Foetus and Newborn, KU Leuven, University Hospital Leuven, Belgium; Department Obstetrics and Gynaecology, University Hospital Leuven, Belgium., Devriendt K; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Belgium., Vermeesch JR; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Belgium. Electronic address: Joris.vermeesch@uz.kuleuven.ac.be.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2014 Sep; Vol. 57 (9), pp. 487-93. Date of Electronic Publication: 2014 May 20.
DOI: 10.1016/j.ejmg.2014.05.001
Abstrakt: 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.
(Copyright © 2014 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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