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  • Collantes, Edward Ryan A.Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States; Department of Ophthalmology, Manila Doctors Hospital, Manila, Philippines (author)

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

  • Article/chapterEnglish2022

Publisher, publication year, extent ...

  • 2021-12-28
  • John Wiley & Sons,2022
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:umu-191094
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-191094URI
  • https://doi.org/10.1002/humu.24320DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Errata: Collantes, E.R.A., Delfin, M.S., Fan, B., Torregosa, J.M.R., Siguan-Bell, C., Vincent de Guzman Florcruz, N., Martinez, J.M.D., Joy Masna-Hidalgo, B., Guzman, V.P.T., Anotado-Flores, J.F., Levina, F.D., Hernandez, S.R.C., Collantes, A.A., Sibulo, M.C., Rong, S. and Wiggs, J.L. (2022), EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma. Human Mutation. DOI: 10.1002/humu.24395.
  • 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.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Delfin, Manuel S.Department of Ophthalmology, Manila Doctors Hospital, Manila, Philippines (author)
  • Fan, BaojianDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States (author)
  • Torregosa, Justine May R.Department of Ophthalmology, Cebu Institute of Medicine, Cebu Velez General Hospital, Cebu City, Philippines (author)
  • Siguan-Bell, ChristineDepartment of Ophthalmology, Cebu Institute of Medicine, Cebu Velez General Hospital, Cebu City, Philippines (author)
  • Florcruz, Nilo Vincent de GuzmanDepartment 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 (author)
  • Martinez, Jose Maria D.Glaucoma Service, Department of Ophthalmology, East Avenue Medical Center, Quezon City, Philippines (author)
  • Masna-Hidalgo, Barbara JoyDepartment of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines (author)
  • Guzman, Vincent Paul T.Department of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines (author)
  • Anotado-Flores, Jewel FaithDepartment of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines (author)
  • Levina, Faye D.Department of Ophthalmology, Jose R. Reyes Memorial Medical Center, Manila, Philippines (author)
  • Hernandez, Sophia Raine C.Umeå universitet,Institutionen för molekylärbiologi (Medicinska fakulteten)(Swepub:umu)sohe0139 (author)
  • Collantes, Anthony A.Department of Biochemistry, College of Medicine, Our Lady of Fatima University, Valenzuela, Philippines (author)
  • Sibulo, Michael CarreonEye Institute, St. Luke's Medical Center, Quezon City, Philippines (author)
  • Rong, ShisongDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States (author)
  • Wiggs, Janey L.Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States (author)
  • Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States; Department of Ophthalmology, Manila Doctors Hospital, Manila, PhilippinesDepartment of Ophthalmology, Manila Doctors Hospital, Manila, Philippines (creator_code:org_t)

Related titles

  • In:Human Mutation: John Wiley & Sons43:2, s. 240-2521059-77941098-1004

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