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Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23.
Ophthalmic Surg Lasers Imaging Retina. 2016 Feb; 47(2):183-6.OS

Abstract

Usher syndrome is an autosomal recessive condition characterized by retinitis pigmentosa (RP) and congenital hearing loss, with or without vestibular dysfunction. Allelic variants of CDH23 cause both Usher syndrome type 1D (USH1D) and a form of nonsyndromic hearing loss (DFNB12). The authors describe here a 34-year-old patient with congenital hearing loss and a new diagnosis of sector RP who was found to have two novel compound heterozygous mutations in CDH23, including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation. This is the first report of sector RP associated with these types of mutations in CDH23.

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Publisher Full Text (DOI)

Authors

Branson SV
No affiliation info available
McClintic JI
No affiliation info available
Stamper TH
No affiliation info available
Haldeman-Englert CR
No affiliation info available
John VJ
No affiliation info available

MeSH

AdultCadherin Related ProteinsCadherinsElectroretinographyFemaleHearing Loss, SensorineuralHumansMutation, MissenseRNA Splice SitesRetinitis PigmentosaTomography, Optical CoherenceUsher SyndromesVisual AcuityVisual Field TestsVisual Fields

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26878454

Citation

Branson, Sara V., et al. "Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23." Ophthalmic Surgery, Lasers & Imaging Retina, vol. 47, no. 2, 2016, pp. 183-6.
Branson SV, McClintic JI, Stamper TH, et al. Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. Ophthalmic Surg Lasers Imaging Retina. 2016;47(2):183-6.
Branson, S. V., McClintic, J. I., Stamper, T. H., Haldeman-Englert, C. R., & John, V. J. (2016). Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. Ophthalmic Surgery, Lasers & Imaging Retina, 47(2), 183-6. https://doi.org/10.3928/23258160-20160126-14
Branson SV, et al. Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. Ophthalmic Surg Lasers Imaging Retina. 2016;47(2):183-6. PubMed PMID: 26878454.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. AU - Branson,Sara V, AU - McClintic,Jedediah I, AU - Stamper,Tara H, AU - Haldeman-Englert,Chad R, AU - John,Vishak J, PY - 2015/07/24/received PY - 2015/11/10/accepted PY - 2016/2/16/entrez PY - 2016/2/16/pubmed PY - 2016/11/15/medline SP - 183 EP - 6 JF - Ophthalmic surgery, lasers & imaging retina JO - Ophthalmic Surg Lasers Imaging Retina VL - 47 IS - 2 N2 - Usher syndrome is an autosomal recessive condition characterized by retinitis pigmentosa (RP) and congenital hearing loss, with or without vestibular dysfunction. Allelic variants of CDH23 cause both Usher syndrome type 1D (USH1D) and a form of nonsyndromic hearing loss (DFNB12). The authors describe here a 34-year-old patient with congenital hearing loss and a new diagnosis of sector RP who was found to have two novel compound heterozygous mutations in CDH23, including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation. This is the first report of sector RP associated with these types of mutations in CDH23. SN - 2325-8179 UR - https://www.unboundmedicine.com/medline/citation/26878454/Sector_Retinitis_Pigmentosa_Associated_With_Novel_Compound_Heterozygous_Mutations_of_CDH23_ DB - PRIME DP - Unbound Medicine ER -