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A locus for ophthalmo‐acromelic syndrome mapped to 10p11.23
Author(s) -
Hamanoue Haruka,
Megarbane Andre,
Tohma Takaya,
Nishimura Akira,
Mizuguchi Takeshi,
Saitsu Hirotomo,
Sakai Haruya,
Miura Shoko,
Toda Tatsushi,
Miyake Noriko,
Niikawa Norio,
Yoshiura Koichiro,
Hirahara Fumiki,
Matsumoto Naomichi
Publication year - 2009
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.32656
Subject(s) - locus (genetics) , genetics , disease gene identification , candidate gene , consanguinity , snp , single nucleotide polymorphism , biology , gene , mutation , exome sequencing , genotype
Ophthalmo‐acromelic syndrome (OAS, OMIM %206920) is a rare autosomal recessive disease, presenting with clinical anophthalmia and limb anomalies. We recruited three OAS families including a Japanese family with two affected patients and two consanguineous Lebanese families each having an affected. Homozygosity mapping was performed using the 50K SNP chip and additional informative markers. A locus for OAS was mapped to the 422‐kb region at 10q11.23, based on the results from the two consanguineous families as well as the consistent data from the Japanese non‐consanguineous family. The 422‐kb region only contained one gene, MPP7 . Although we could not detect any pathological mutations in OAS families analyzed, MPP7 could remain a candidate as aberrant changes might exist beyond our mutation detection methods. Further families are needed to confirm this candidate locus. © 2009 Wiley‐Liss, Inc.