Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Abstract excerpt

Gene discovery using massively parallel sequencing has focused on phenotypes diagnosed postnatally such as well-characterized syndromes or intellectual disability, but is rarely reported for fetal disorders. We used family-based whole-exome sequencing in order to identify causal variants for a recurrent pattern of an undescribed lethal fetal congenital anomaly syndrome. The clinical signs included intrauterine...

Topics

• Abnormalities, Multiple
• Base Sequence
• Ciliary Motility Disorders
• Exome
• Genes, Recessive
• Genetic Predisposition to Disease
• High-Throughput Nucleotide Sequencing
• Humans
• Kinesins
• Molecular Sequence Data