Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

ABSTRACT:

Background

Lethal fetal akinesia deformation sequence (FADS) describes a clinically and genetically heterogeneous phenotype that includes fetal akinesia, intrauterine growth retardation, arthrogryposis and developmental anomalies. Affected babies die as a result of pulmonary hypoplasia. We aimed to identify the underlying genetic cause of this disorder in a family in which there were three affected individuals from two sibships.

Methods

Autosomal-recessive inheritance was suggested by a family history of consanguinity and by recurrence of the phenotype between the two sibships. We performed exome sequencing of the affected individuals and their unaffected mother, followed by autozygosity mapping and variant filtering to identify the causative gene.

Results

Five autozy

SUBMITTER: Watson CM 

PROVIDER: S-EPMC4819622 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature