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Sökning: L773:1098 1004 OR L773:1059 7794 > EFEMP1 rare variant...

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

Collantes, Edward Ryan A. (författare)
Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States; Department of Ophthalmology, Manila Doctors Hospital, Manila, Philippines
Delfin, Manuel S. (författare)
Department of Ophthalmology, Manila Doctors Hospital, Manila, Philippines
Fan, Baojian (författare)
Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States
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Torregosa, Justine May R. (författare)
Department of Ophthalmology, Cebu Institute of Medicine, Cebu Velez General Hospital, Cebu City, Philippines
Siguan-Bell, Christine (författare)
Department of Ophthalmology, Cebu Institute of Medicine, Cebu Velez General Hospital, Cebu City, Philippines
Florcruz, Nilo Vincent de Guzman (författare)
Department of Ophthalmology and Visual Sciences, University of the Philippines-Philippine General Hospital, Manila, Philippines; Glaucoma Service, Department of Ophthalmology, East Avenue Medical Center, Quezon City, Philippines
Martinez, Jose Maria D. (författare)
Glaucoma Service, Department of Ophthalmology, East Avenue Medical Center, Quezon City, Philippines
Masna-Hidalgo, Barbara Joy (författare)
Department of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines
Guzman, Vincent Paul T. (författare)
Department of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines
Anotado-Flores, Jewel Faith (författare)
Department of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines
Levina, Faye D. (författare)
Department of Ophthalmology, Jose R. Reyes Memorial Medical Center, Manila, Philippines
Hernandez, Sophia Raine C. (författare)
Umeå universitet,Institutionen för molekylärbiologi (Medicinska fakulteten)
Collantes, Anthony A. (författare)
Department of Biochemistry, College of Medicine, Our Lady of Fatima University, Valenzuela, Philippines
Sibulo, Michael Carreon (författare)
Eye Institute, St. Luke's Medical Center, Quezon City, Philippines
Rong, Shisong (författare)
Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States
Wiggs, Janey L. (författare)
Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States
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 (creator_code:org_t)
2021-12-28
2022
Engelska.
Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 43:2, s. 240-252
Relaterad länk:
https://urn.kb.se/re...
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https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • 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 onset of 16 years and with 76% developing blindness. To investigate functional effects, we transfected COS7 cells with vectors expressing the three novel EFEMP1 variants and showed that all three variants found in JOAG patients caused significant intracellular protein aggregation and retention compared to wild type and also compared to EFEMP1 variants associated with other ocular phenotypes including an early-onset form of macular degeneration, Malattia Leventinese/Doyne's Honeycomb retinal dystrophy. These results suggest that rare EFEMP1 coding variants can cause JOAG through a mechanism involving protein aggregation and retention, and that the extent of intracellular retention correlates with disease phenotype. This is the first report of EFEMP1 variants causing JOAG, expanding the EFEMP1 disease spectrum. Our results suggest that EFEMP1 mutations appear to be a relatively common cause of JOAG in Filipino families, an ethnically diverse population.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Oftalmologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Ophthalmology (hsv//eng)

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