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
Child's Nervous System – Springer Journals
Published: Jul 18, 2017
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