@article{4e2d4ebae57844d5abe9a3a3ff8a756c,
title = "A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis",
abstract = "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.",
keywords = "NME7, cilia, situs inversus totalis, γ-tubulin ring complex",
author = "Orit Reish and Liam Aspit and Arielle Zouella and Yehudah Roth and Sylvie Polak-Charcon and Tatiana Baboushkin and Lilach Benyamini and Scheetz, {Todd E.} and Huda Mussaffi and Sheffield, {Val C.} and Ruti Parvari",
note = "Publisher Copyright: {\textcopyright} 2016 Wiley Periodicals, Inc.",
year = "2016",
month = aug,
day = "1",
doi = "10.1002/humu.22998",
language = "אנגלית",
volume = "37",
pages = "727--731",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "John Wiley and Sons Inc.",
number = "8",
}