Exome analysis in an Estonian multiplex family with neural tube defects—a case report

Exome analysis in an Estonian multiplex family with neural tube defects—a case report Introduction Neural tube defects (NTDs) are a group of com- genetic background of NTDs and proposes that common and mon and severe congenital birth defects that occur during low frequency variants in genes involved mostly in one- early embryonic development due to incomplete closure of carbon metabolism or planar cell polarity (PCP) pathways the neural tube. The genetic architecture of human NTDs, can act in an additive manner to increase the genetic risk of including spina bifida and hydrocephalus, is highly heteroge- the disease. neous, with multiple genes/loci and both gene-gene and gene- environment interactions involved. Hence, the variation in . . Keywords Exome sequencing Neural tube defects Spina outcomes also most likely relates to a combination of the bifida Hydrocephalus severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits. Methods Here, we present a multiple-spouse family with one pedigree lineage where three brothers are affected with Introduction NTDs—two lumbar spina bifidas without hydrocephalus and one obstructive hydrocephalus. We sequenced the exomes Neural tube defects (NTDs) represent common and severe of three NTD patients and their parents. congenital birth defects that result from failure of closure of Results The analysis revealed a heterozygous c.844ins68 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Child's Nervous System Springer Journals

Exome analysis in an Estonian multiplex family with neural tube defects—a case report

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Publisher
Springer Journals
Copyright
Copyright © 2017 by Springer-Verlag GmbH Germany
Subject
Medicine & Public Health; Neurosurgery; Neurosciences
ISSN
0256-7040
eISSN
1433-0350
D.O.I.
10.1007/s00381-017-3491-1
Publisher site
See Article on Publisher Site

Abstract

Introduction Neural tube defects (NTDs) are a group of com- genetic background of NTDs and proposes that common and mon and severe congenital birth defects that occur during low frequency variants in genes involved mostly in one- early embryonic development due to incomplete closure of carbon metabolism or planar cell polarity (PCP) pathways the neural tube. The genetic architecture of human NTDs, can act in an additive manner to increase the genetic risk of including spina bifida and hydrocephalus, is highly heteroge- the disease. neous, with multiple genes/loci and both gene-gene and gene- environment interactions involved. Hence, the variation in . . Keywords Exome sequencing Neural tube defects Spina outcomes also most likely relates to a combination of the bifida Hydrocephalus severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits. Methods Here, we present a multiple-spouse family with one pedigree lineage where three brothers are affected with Introduction NTDs—two lumbar spina bifidas without hydrocephalus and one obstructive hydrocephalus. We sequenced the exomes Neural tube defects (NTDs) represent common and severe of three NTD patients and their parents. congenital birth defects that result from failure of closure of Results The analysis revealed a heterozygous c.844ins68

Journal

Child's Nervous SystemSpringer Journals

Published: Jul 18, 2017

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