A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma

Anna S. Kitzmann; Jose S. Pulido; Matthew J. Ferber; W. Edward Highsmith; Dusica Babovic-Vuksanovic

doi:10.1080/13816810600977168

A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma

Anna S. Kitzmann, Jose S. Pulido, Matthew J. Ferber, W. Edward Highsmith, Dusica Babovic-Vuksanovic

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

4 Scopus citations

Abstract

Purpose: To report a case of a unilateral retinal cavernous hemangioma associated with a novel splice-site mutation in CCM1/KRIT1. Methods: An 11-year-old girl was noted to have an asymptomatic retinal cavernous hemangioma in the left eye. CCM1/KRIT1 was screened for mutations. Results: Genetic evaluation of CCM1/KRIT1 revealed a single guanine-to-cytosine transversion in the invariant splice acceptor consensus sequence of intron 8 (c.1146-1G→C), which is predicted to result in abnormal protein splicing. Conclusions: Mutations in CCM1/KRIT1 may be found in asymptomatic patients with retinal cavernous hemangioma.

Original language	English (US)
Pages (from-to)	157-159
Number of pages	3
Journal	Ophthalmic Genetics
Volume	27
Issue number	4
DOIs	https://doi.org/10.1080/13816810600977168
State	Published - Dec 1 2006

Keywords

CCM1/KRIT1 gene
Cerebral cavernous hemangioma
Retinal cavernous hemangioma

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology
Genetics(clinical)

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10.1080/13816810600977168

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title = "A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma",

abstract = "Purpose: To report a case of a unilateral retinal cavernous hemangioma associated with a novel splice-site mutation in CCM1/KRIT1. Methods: An 11-year-old girl was noted to have an asymptomatic retinal cavernous hemangioma in the left eye. CCM1/KRIT1 was screened for mutations. Results: Genetic evaluation of CCM1/KRIT1 revealed a single guanine-to-cytosine transversion in the invariant splice acceptor consensus sequence of intron 8 (c.1146-1G→C), which is predicted to result in abnormal protein splicing. Conclusions: Mutations in CCM1/KRIT1 may be found in asymptomatic patients with retinal cavernous hemangioma.",

keywords = "CCM1/KRIT1 gene, Cerebral cavernous hemangioma, Retinal cavernous hemangioma",

author = "Kitzmann, {Anna S.} and Pulido, {Jose S.} and Ferber, {Matthew J.} and Highsmith, {W. Edward} and Dusica Babovic-Vuksanovic",

note = "Funding Information: Supported in part by an unrestricted grant from Research to Prevent Blindness, Inc., NY.",

year = "2006",

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doi = "10.1080/13816810600977168",

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pages = "157--159",

journal = "Ophthalmic Genetics",

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T1 - A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma

AU - Kitzmann, Anna S.

AU - Pulido, Jose S.

AU - Ferber, Matthew J.

AU - Highsmith, W. Edward

AU - Babovic-Vuksanovic, Dusica

N1 - Funding Information: Supported in part by an unrestricted grant from Research to Prevent Blindness, Inc., NY.

PY - 2006/12/1

Y1 - 2006/12/1

N2 - Purpose: To report a case of a unilateral retinal cavernous hemangioma associated with a novel splice-site mutation in CCM1/KRIT1. Methods: An 11-year-old girl was noted to have an asymptomatic retinal cavernous hemangioma in the left eye. CCM1/KRIT1 was screened for mutations. Results: Genetic evaluation of CCM1/KRIT1 revealed a single guanine-to-cytosine transversion in the invariant splice acceptor consensus sequence of intron 8 (c.1146-1G→C), which is predicted to result in abnormal protein splicing. Conclusions: Mutations in CCM1/KRIT1 may be found in asymptomatic patients with retinal cavernous hemangioma.

AB - Purpose: To report a case of a unilateral retinal cavernous hemangioma associated with a novel splice-site mutation in CCM1/KRIT1. Methods: An 11-year-old girl was noted to have an asymptomatic retinal cavernous hemangioma in the left eye. CCM1/KRIT1 was screened for mutations. Results: Genetic evaluation of CCM1/KRIT1 revealed a single guanine-to-cytosine transversion in the invariant splice acceptor consensus sequence of intron 8 (c.1146-1G→C), which is predicted to result in abnormal protein splicing. Conclusions: Mutations in CCM1/KRIT1 may be found in asymptomatic patients with retinal cavernous hemangioma.

KW - CCM1/KRIT1 gene

KW - Cerebral cavernous hemangioma

KW - Retinal cavernous hemangioma

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A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma

Abstract

Keywords

ASJC Scopus subject areas

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