Abstract：
PURPOSE:To identify the genetic cause in five families with autosomal recessive retinitis pigmentosa, a genetic disorder involving retinal degeneration and visual loss with high genetic heterogeneity. METHODS:We performed whole-genome single nucleotide polymorphism genotyping on 35 members from the five families to map the region of homozygosity shared by all patients. Whole-genome sequencing was then conducted on one of the patients and a novel variant was identified in POMGNT1 from the homozygous region, which was confirmed by Sanger sequencing and sequenced in all family members. Mutant and wild-type POMGNT1 were expressed in heterologous cells to assess enzyme activity. RESULTS:A 1.8-Mb homozygous region was identified at 1p34-p33 shared by all 17 patients. Whole-genome sequencing revealed a novel missense mutation in POMGNT1 (c.359A>C, p.Leu120Arg) from this homozygous region, which was shown to co-segregate with disease phenotype. The mutant protein carrying this missense mutation showed an approximately 80% decrease in POMGNT1 enzyme activity compared with the wild type. CONCLUSIONS:We identified a novel mutation in POMGNT1 that causes nonsyndromic autosomal recessive retinitis pigmentosa, adding to the genetic heterogeneity of this retinal disease. POMGNT1 encodes a glycosyltransferase in O-mannosyl glycosylation and was previously found to be responsible for a group of congenital muscular dystrophies called dystroglycanopathies. Our discovery suggests the involvement of O-mannosyl glycosylation in retinitis pigmentosa and presents an instance of POMGNT1 mutation that does not involve muscular dystrophy.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Wang NH,Chen SJ,Yang CF,Chen HW,Chuang HP,Lu YH,Chen CH,Wu JY,Niu DM,Chen YTdoi
10.1167/iovs.16-19463subject
Has Abstractpub_date
2016-07-01 00:00:00pages
3601-9issue
8eissn
0146-0404issn
1552-5783pii
2533459journal_volume
57pub_type
杂志文章abstract：PURPOSE:To describe the prevalence of AMD in an elderly urban Chinese population in China. METHODS:A population-based, cross-sectional study was conducted using a cluster random sample of residents aged 50 years or older living in the Jiangning Road Subdistrict, Jing'an District, Shanghai, China. All participants unde...
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