Sacral agenesis: a pilot whole exome sequencing and copy number study.

ABSTRACT:

Background

Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. CRS is a complex condition, attributed to an abnormal development of the caudal mesoderm, likely caused by the effect of interacting genetic and environmental factors. A well-known risk factor is maternal type 1 diabetes.

Method

Whole exome sequencing and copy number variation (CNV) analyses were conducted on 4 Caucasian trios to identify de novo and inherited rare mutations.

Results

In this pilot study, exome sequencing and copy number variation (CNV) analyses implicate a number of candidate genes, including SPTBN

SUBMITTER: Porsch RM 

PROVIDER: S-EPMC5178083 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature