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Whole‐exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies
Author(s) -
Kondo Yukiko,
Koshimizu Eriko,
Megarbane Andre,
Hamanoue Haruka,
Okada Ippei,
Nishiyama Kiyomi,
Kodera Hirofumi,
Miyatake Satoko,
Tsurusaki Yoshinori,
Nakashima Mitsuko,
Doi Hiroshi,
Miyake Noriko,
Saitsu Hirotomo,
Matsumoto Naomichi
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35983
Subject(s) - microphthalmia , exome sequencing , genetics , anophthalmia , disease gene identification , biology , exome , locus (genetics) , abnormality , consanguinity , mutation , gene , medicine , psychiatry
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.