title: Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
abstract: 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.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kondo
authors.forename: Eriko
authors.initials: E
authors.lastname: Koshimizu
authors.forename: Andre
authors.initials: A
authors.lastname: Megarbane
authors.forename: Haruka
authors.initials: H
authors.lastname: Hamanoue
authors.forename: Ippei
authors.initials: I
authors.lastname: Okada
authors.forename: Kiyomi
authors.initials: K
authors.lastname: Nishiyama
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Kodera
authors.forename: Satoko
authors.initials: S
authors.lastname: Miyatake
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Nakashima
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Doi
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D005091:Exons; D005190:Family; D005260:Female; D006720:Homozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation; D015676:Osteonectin / Q000235:genetics; D010375:Pedigree; D017421:Sequence Analysis / Q000379:methods; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C485727:FNBP4 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D015676:Osteonectin; C468135:SMOC1 protein, human