A HomozygousNme7Mutation Is Associated withSitus Inversus Totalis


    loading  Checking for direct PDF access through Ovid

Abstract

We investigated the cause ofsitus inversus totalis(SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change inNME7, resulting in deletion of an exon causing an in-frame deletion of 34 amino acids located in the second NDK domain of the protein and segregated with the defective lateralization in the family.NME7is an important developmental gene, and NME7 protein is a component of the γ-tubulin ring complex. This mutation is predicted to affect the interaction of NME7 protein with this complex as it deletes the amino acids crucial for the binding. SIT associated with homozygous deletion in our patients is in line withNme7−/-mutant mice phenotypes consisting of congenital hydrocephalus and SIT, indicating a novel human laterality patterning role for NME7. Further cases are required to elaborate the full human phenotype associated withNME7mutations.

    loading  Loading Related Articles