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High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.

Abstract：

:Autosomal-recessive high-grade axial myopia was diagnosed in Bedouin Israeli consanguineous kindred. Some affected individuals also had variable expressivity of early-onset cataracts, peripheral vitreo-retinal degeneration, and secondary sight loss due to severe retinal detachments. Through genome-wide linkage analysis, the disease-associated gene was mapped to ∼1.7 Mb on chromosome 3q28 (the maximum LOD score was 11.5 at θ = 0 for marker D3S1314). Sequencing of the entire coding regions and intron-exon boundaries of the six genes within the defined locus identified a single mutation (c.1523G>T) in exon 10 of LEPREL1, encoding prolyl 3-hydroxylase 2 (P3H2), a 2-oxoglutarate-dependent dioxygenase that hydroxylates collagens. The mutation affects a glycine that is conserved within P3H isozymes. Analysis of wild-type and p.Gly508Val (c.1523G>T) mutant recombinant P3H2 polypeptides expressed in insect cells showed that the mutation led to complete inactivation of P3H2.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Mordechai S,Gradstein L,Pasanen A,Ofir R,El Amour K,Levy J,Belfair N,Lifshitz T,Joshua S,Narkis G,Elbedour K,Myllyharju J,Birk OS

doi

10.1016/j.ajhg.2011.08.003

subject

Has Abstract

pub_date

2011-09-09 00:00:00

pages

438-45

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(11)00320-X

journal_volume

89

pub_type

杂志文章

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