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Article

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

American journal of human genetics - 9 Sept 2011

Mordechai Shikma, Gradstein Libe, Pasanen Annika, Ofir Rivka, El Amour Khalil, Levy Jaime, Belfair Nadav, Lifshitz Tova, Joshua Sara, Narkis Ginat, Elbedour Khalil, Myllyharju Johanna, Birk Ohad S

Abstract excerpt

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...

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PMID: 21885030
DOI: 10.1016/j.ajhg.2011.08.003
PMCID: PMC3169819

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High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.PMID 21885030Read ↗

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The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.Semantic proximity Read ↗

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.Semantic proximity Read ↗

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