A locus for ophthalmo-acromelic syndrome mapped to 10p11.23

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. H...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2009-03, Vol.149A (3), p.336-342
Main Authors: 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
Format: Article
Language:English
Subjects:
10p11.23
Anophthalmos - genetics
Biological and medical sciences
Brain - diagnostic imaging
Child
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 10
Classical genetics, quantitative genetics, hybrids
Consanguinity
DNA Mutational Analysis
Female
Fundamental and applied biological sciences. Psychology
Genes, Recessive
genetic locus
Genetic Markers
Genetics of eukaryotes. Biological and molecular evolution
Haplotypes
Homozygote
Human
Humans
Limb Deformities, Congenital - genetics
linkage study
Male
Medical genetics
Medical sciences
Membrane Proteins - genetics
ophthalmo-acromelic syndrome
Pedigree
Polymorphism, Single Nucleotide
Radiography
Siblings
Syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32656