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. 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.
Hamanoue
Haruka
H
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Megarbane
Andre
A
Tohma
Takaya
T
Nishimura
Akira
A
Mizuguchi
Takeshi
T
Saitsu
Hirotomo
H
Sakai
Haruya
H
Miura
Shoko
S
Toda
Tatsushi
T
Miyake
Noriko
N
Niikawa
Norio
N
Yoshiura
Koichiro
K
Hirahara
Fumiki
F
Matsumoto
Naomichi
N
D000853:Anophthalmos / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011859:Radiography; D035781:Siblings; D013577:Syndrome
D005819:Genetic Markers; C482290:MPP7 protein, human; D008565:Membrane Proteins