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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7
European Journal of Human Genetics, Volume 21, No. 9, Year 2013
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Description
To date, two maternal-effect genes have been shown to have causative roles in recurrent hydatidiform moles (RHMs); NLRP7 that is mutated in 48-60% of patients with RHMs and C6orf221 (HUGO-approved nomenclature is now KHDC3L), a recently identified gene, that is mutated in 14% of patients with RHMs who are negative for NLRP7 mutations. We sequenced KHDC3L in 97 patients with RHMs and reproductive loss who are mostly negative for NLRP7 mutations. We identified three unrelated patients, each homozygous for one of the two protein-truncating mutations, a novel 4-bp deletion resulting in a frameshift, c.299-302delTCAA, p.Ile100Argfs*2, and a previously described 4-bp deletion, c.322-325delGACT, p.Asp108Ilefs*30, transmitted on a shared haplotype to three patients from different populations. We show that five HM tissues from one of these patients are diploid and biparental similar to HMs from patients with two defective NLRP7 mutations. Using immunofluorescence, we show that KHDC3L protein displays a juxta perinuclear signal and colocalizes with NLRP7 in lymphoblastoid cell lines from normal subjects. Using cell lines from patients, we demonstrate that the KHDC3L mutations do not change the subcellular localization of the protein in hematopoietic cells. Our data highlight the similarities between the two causative genes for RHMs, KHDC3L and NLRP7, in their subcellular localization, the parental contribution to the HM tissues caused by them, and the presence of several founder mutations and variants in both of them indicating positive selection and adaptation. © 2013 Macmillan Publishers Limited All rights reserved.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3746251/bin/ejhg2012274x1.ppt
https://efashare.b-cdn.net/share/pmc/articles/PMC3746251/bin/ejhg2012274x2.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC3746251/bin/ejhg2012274x3.xls
https://efashare.b-cdn.net/share/pmc/articles/PMC3746251/bin/ejhg2012274x4.xls
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https://efashare.b-cdn.net/share/pmc/articles/PMC3746251/bin/ejhg2012274x6.xls
https://efashare.b-cdn.net/share/pmc/articles/PMC3746251/bin/ejhg2012274x7.doc
Authors & Co-Authors
Reddy, Ramesh
Canada, Montreal
Mcgill University Health Centre, Montreal General Hospital
Canada, Montreal
Centre Universitaire de Santé Mcgill
Akoury, Elie
Canada, Montreal
Mcgill University Health Centre, Montreal General Hospital
Canada, Montreal
Centre Universitaire de Santé Mcgill
Phuong Nguyen, Ngoc Minh
Canada, Montreal
Mcgill University Health Centre, Montreal General Hospital
Canada, Montreal
Centre Universitaire de Santé Mcgill
Abdul-Rahman, Omar A.
United States, Jackson
University of Mississippi Medical Center
Dery, Christine
Canada, Montreal
Mcgill University Health Centre, Montreal General Hospital
Canada, Montreal
Centre Universitaire de Santé Mcgill
Gupta, Neerja
India, New Delhi
All India Institute of Medical Sciences, new Delhi
Daley, William P.
United States, Jackson
University of Mississippi Medical Center
Ao, Asangla
Canada, Montreal
Centre Universitaire de Santé Mcgill
Landolsi, Hanène
Tunisia, Sousse
Chu Sahloul
Ann Fisher, Rosemary
United Kingdom, London
Imperial College London
Touïtou, Isabelle
France, Paris
Inserm
Slim, Rima
Canada, Montreal
Mcgill University Health Centre, Montreal General Hospital
Canada, Montreal
Centre Universitaire de Santé Mcgill
Statistics
Citations: 66
Authors: 12
Affiliations: 7
Identifiers
Doi:
10.1038/ejhg.2012.274
ISSN:
10184813
e-ISSN:
14765438
Research Areas
Genetics And Genomics
Maternal And Child Health
Sexual And Reproductive Health