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Article

EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.

Human mutation - 1 Feb 2022

Collantes Edward Ryan A, Delfin Manuel S, Fan Baojian, Torregosa Justine May R, Siguan-Bell Christine, Florcruz Nilo Vincent de Guzman, Martinez Jose Maria D, Masna-Hidalgo Barbara Joy, Guzman Vincent Paul T, Anotado-Flores Jewel Faith, Levina Faye D, Hernandez Sophia Raine C, Collantes Anthony A, Sibulo Michael Carreon, Rong Shisong, Wiggs Janey L

Abstract excerpt

Juvenile open-angle glaucoma (JOAG) is a severe type of glaucoma with onset before age 40 and dominant inheritance. Using exome sequencing we identified 3 independent families from the Philippines with novel EFEMP1 variants (c.238A>T, p.Asn80Tyr; c.1480T>C, p.Ter494Glnext*29; and c.1429C>T, p.Arg477Cys) co-segregating with disease. Affected variant carriers (N = 34) exhibited severe disease with average age of...

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Identifiers

PMID: 34923728
DOI: 10.1002/humu.24320
PMCID: PMC8972201

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EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.PMID 34923728Read ↗

EFEMP1 rare variants cause juvenile-onset open angle glaucoma in families from the PhilippinesSemantic proximity Read ↗

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Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle GlaucomaSemantic proximity Read ↗

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