Journal article
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis
Human mutation, Vol.37(8), pp.727-731
08/2016
DOI: 10.1002/humu.22998
PMCID: PMC6066188
PMID: 27060491
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.
Details
- Title: Subtitle
- A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis
- Creators
- Orit Reish - The Sackler School of Medicine, Tel Aviv University, Tel Aviv, IsraelLiam Aspit - Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, IsraelArielle Zouella - Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, IsraelYehudah Roth - Department of Otolaryngology - Head and Neck Surgery, Edith Wolfson Medical Center, Holon, IsraelSylvie Polak-Charcon - Department of Pathology, The Sheba Medical Center at Tel Hashomer, Ramat Gan, IsraelTatiana Baboushkin - Department of Pathology, The Sheba Medical Center at Tel Hashomer, Ramat Gan, IsraelLilach Benyamini - Genetic Institute, Assaf Harofeh Medical Center, Zerifin, IsraelTodd E Scheetz - Stephen A Wynn Institute for Vision Research and Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IowaHuda Mussaffi - Pediatric Pulmunology Institute, Schneider Children's Medical Center of Israel, Petach Tikva, IsraelVal C Sheffield - Department of Pediatrics, Division of Medical Genetics, University of Iowa, Iowa City, IowaRuti Parvari - National Institute of Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, Israel
- Resource Type
- Journal article
- Publication Details
- Human mutation, Vol.37(8), pp.727-731
- DOI
- 10.1002/humu.22998
- PMID
- 27060491
- PMCID
- PMC6066188
- NLM abbreviation
- Hum Mutat
- ISSN
- 1059-7794
- eISSN
- 1098-1004
- Publisher
- United States
- Grant note
- R01 EY011298 / NEI NIH HHS R01 EY017168 / NEI NIH HHS
- Language
- English
- Date published
- 08/2016
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980067902771
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