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

Jesse D. Sengillo; Winston Lee; Mathieu F. Bakhoum; Galaxy Y. Cho; John P.W. Chiang; Stephen H. Tsang

doi:10.1097/ICB.0000000000000647

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

Jesse D. Sengillo, Winston Lee, Mathieu F. Bakhoum, Galaxy Y. Cho, John P.W. Chiang, Stephen H. Tsang

Ophthalmology

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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 language	English (US)
Pages (from-to)	S67-S71
Journal	Retinal cases & brief reports
Volume	12
DOIs	https://doi.org/10.1097/ICB.0000000000000647
State	Published - Sep 1 2018

ASJC Scopus subject areas

Ophthalmology

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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 Chiang, {John P.W.} and Tsang, {Stephen H.}",

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doi = "10.1097/ICB.0000000000000647",

language = "English (US)",

volume = "12",

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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, John P.W.

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.

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

Abstract

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