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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies
American Journal of Medical Genetics, Part A, Volume 161, No. 7, Year 2013
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Description
Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal recessive disorder. Recently, we and others successfully identified SMOC1 as the causative gene for MLA. However, there are several MLA families without SMOC1 abnormality, suggesting locus heterogeneity in MLA. We aimed to identify a pathogenic mutation in one Lebanese family having an MLA-like condition without SMOC1 mutation by whole-exome sequencing (WES) combined with homozygosity mapping. A c.683C>T (p.Thr228Met) in FNBP4 was found as a primary candidate, drawing the attention that FNBP4 and SMOC1 may potentially modulate BMP signaling. © 2013 Wiley Periodicals, Inc.
Authors & Co-Authors
Kondo, Yukiko
Japan, Yokohama
Graduate School of Medicine
Koshimizu, Eriko
Japan, Yokohama
Graduate School of Medicine
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Hamanoue, Haruka
Japan, Yokohama
Graduate School of Medicine
Okada, Ippei
Japan, Yokohama
Graduate School of Medicine
Nishiyama, Kiyomi
Japan, Yokohama
Graduate School of Medicine
Kodera, Hirofumi
Japan, Yokohama
Graduate School of Medicine
Miyatake, Satoko
Japan, Yokohama
Graduate School of Medicine
Tsurusaki, Yoshinori
Japan, Yokohama
Graduate School of Medicine
Nakashima, Mitsuko
Japan, Yokohama
Graduate School of Medicine
Doi, Hiroshi
Japan, Yokohama
Graduate School of Medicine
Miyake, Noriko
Japan, Yokohama
Graduate School of Medicine
Saitsu, Hirotomo
Japan, Yokohama
Graduate School of Medicine
Matsumoto, Naomichi
Japan, Yokohama
Graduate School of Medicine
Statistics
Citations: 20
Authors: 14
Affiliations: 2
Identifiers
Doi:
10.1002/ajmg.a.35983
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics