CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1

Jesse D. Sengillo, Winston Lee, Mathieu F. Bakhoum, Galaxy Y. Cho, Pei-Wen Chiang, Stephen H. Tsang

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

PURPOSE: To report a novel synonymous mutation in CHM and the associated phenotype in an affected man and carrier mother.

METHODS: Case report.

RESULTS: A 34-year-old man with a long history of progressive night blindness and visual field constriction was diagnosed with choroideremia based on ocular examination and multimodal retinal imaging. Extensive chorioretinal degeneration was noted on spectral domain optical coherence tomography and fundus autofluorescence imaging. Candidate CHM gene sequencing revealed a hemizygous c.1359C>T, p.(S453S) variant. This variant was heterozygous in the mother of the proband who exhibited the classic carrier phenotype of choroideremia on fundus autofluorescence imaging.

CONCLUSION: A novel c.1359C>T, p.(S453S) variant in CHM is the first-identified synonymous mutation associated with disease manifestation in an affected man and carrier phenotype in a heterozygous mother.

Original languageEnglish (US)
Pages (from-to)S67-S71
JournalRetinal cases & brief reports
Volume12
DOIs
StatePublished - Sep 1 2018
Externally publishedYes

Fingerprint

Choroideremia
Optical Imaging
Mothers
Phenotype
Multimodal Imaging
Night Blindness
Genes
Optical Coherence Tomography
Visual Fields
Constriction
Silent Mutation

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Sengillo, J. D., Lee, W., Bakhoum, M. F., Cho, G. Y., Chiang, P-W., & Tsang, S. H. (2018). CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1. Retinal cases & brief reports, 12, S67-S71. https://doi.org/10.1097/ICB.0000000000000647

CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1. / Sengillo, Jesse D.; Lee, Winston; Bakhoum, Mathieu F.; Cho, Galaxy Y.; Chiang, Pei-Wen; Tsang, Stephen H.

In: Retinal cases & brief reports, Vol. 12, 01.09.2018, p. S67-S71.

Research output: Contribution to journalArticle

Sengillo, JD, Lee, W, Bakhoum, MF, Cho, GY, Chiang, P-W & Tsang, SH 2018, 'CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1', Retinal cases & brief reports, vol. 12, pp. S67-S71. https://doi.org/10.1097/ICB.0000000000000647
Sengillo, Jesse D. ; Lee, Winston ; Bakhoum, Mathieu F. ; Cho, Galaxy Y. ; Chiang, Pei-Wen ; Tsang, Stephen H. / CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1. In: Retinal cases & brief reports. 2018 ; Vol. 12. pp. S67-S71.
@article{350cad50fa4d4021957d6f5a8ad093ca,
title = "CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1",
abstract = "PURPOSE: To report a novel synonymous mutation in CHM and the associated phenotype in an affected man and carrier mother.METHODS: Case report.RESULTS: A 34-year-old man with a long history of progressive night blindness and visual field constriction was diagnosed with choroideremia based on ocular examination and multimodal retinal imaging. Extensive chorioretinal degeneration was noted on spectral domain optical coherence tomography and fundus autofluorescence imaging. Candidate CHM gene sequencing revealed a hemizygous c.1359C>T, p.(S453S) variant. This variant was heterozygous in the mother of the proband who exhibited the classic carrier phenotype of choroideremia on fundus autofluorescence imaging.CONCLUSION: A novel c.1359C>T, p.(S453S) variant in CHM is the first-identified synonymous mutation associated with disease manifestation in an affected man and carrier phenotype in a heterozygous mother.",
author = "Sengillo, {Jesse D.} and Winston Lee and Bakhoum, {Mathieu F.} and Cho, {Galaxy Y.} and Pei-Wen Chiang and Tsang, {Stephen H.}",
year = "2018",
month = "9",
day = "1",
doi = "10.1097/ICB.0000000000000647",
language = "English (US)",
volume = "12",
pages = "S67--S71",
journal = "Retinal Cases and Brief Reports",
issn = "1935-1089",
publisher = "Lippincott Williams and Wilkins",

}

TY - JOUR

T1 - CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1

AU - Sengillo, Jesse D.

AU - Lee, Winston

AU - Bakhoum, Mathieu F.

AU - Cho, Galaxy Y.

AU - Chiang, Pei-Wen

AU - Tsang, Stephen H.

PY - 2018/9/1

Y1 - 2018/9/1

N2 - PURPOSE: To report a novel synonymous mutation in CHM and the associated phenotype in an affected man and carrier mother.METHODS: Case report.RESULTS: A 34-year-old man with a long history of progressive night blindness and visual field constriction was diagnosed with choroideremia based on ocular examination and multimodal retinal imaging. Extensive chorioretinal degeneration was noted on spectral domain optical coherence tomography and fundus autofluorescence imaging. Candidate CHM gene sequencing revealed a hemizygous c.1359C>T, p.(S453S) variant. This variant was heterozygous in the mother of the proband who exhibited the classic carrier phenotype of choroideremia on fundus autofluorescence imaging.CONCLUSION: A novel c.1359C>T, p.(S453S) variant in CHM is the first-identified synonymous mutation associated with disease manifestation in an affected man and carrier phenotype in a heterozygous mother.

AB - PURPOSE: To report a novel synonymous mutation in CHM and the associated phenotype in an affected man and carrier mother.METHODS: Case report.RESULTS: A 34-year-old man with a long history of progressive night blindness and visual field constriction was diagnosed with choroideremia based on ocular examination and multimodal retinal imaging. Extensive chorioretinal degeneration was noted on spectral domain optical coherence tomography and fundus autofluorescence imaging. Candidate CHM gene sequencing revealed a hemizygous c.1359C>T, p.(S453S) variant. This variant was heterozygous in the mother of the proband who exhibited the classic carrier phenotype of choroideremia on fundus autofluorescence imaging.CONCLUSION: A novel c.1359C>T, p.(S453S) variant in CHM is the first-identified synonymous mutation associated with disease manifestation in an affected man and carrier phenotype in a heterozygous mother.

UR - http://www.scopus.com/inward/record.url?scp=85054076389&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85054076389&partnerID=8YFLogxK

U2 - 10.1097/ICB.0000000000000647

DO - 10.1097/ICB.0000000000000647

M3 - Article

VL - 12

SP - S67-S71

JO - Retinal Cases and Brief Reports

JF - Retinal Cases and Brief Reports

SN - 1935-1089

ER -