Premium
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis
Author(s) -
Reish Orit,
Aspit Liam,
Zouella Arielle,
Roth Yehudah,
PolakCharcon Sylvie,
Baboushkin Tatiana,
Benyamini Lilach,
Scheetz Todd E.,
Mussaffi Huda,
Sheffield Val C.,
Parvari Ruti
Publication year - 2016
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22998
Subject(s) - situs inversus , biology , genetics , mutation , phenotype , exon , mutant , gene , exome sequencing , amino acid , anatomy
We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole‐exome analysis revealed a homozygous change in NME7 , 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. NME7 is 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 with Nme7 −/‐ 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 with NME7 mutations.