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Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.

Lin Y, Liu X, Luo L, Qu B, Jiang S, Yang H, Liang X, Ye S, Liu Y - Mol. Vis. (2011)

Bottom Line: A novel c.1488delGinsATAAC mutation was detected in CHM in family 1.This study identified a novel mutation in CHM associated with CHM and its related clinical features.Our findings expand the genotypic spectrum of CHM mutations associated with CHM and confirm the role of Rab escort protein-1 in the pathogenesis of CHM.

View Article: PubMed Central - PubMed

Affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

ABSTRACT

Purpose: To investigate the choroideremia (CHM) gene in two families with CHM and to characterize the related clinical features.

Methods: Two families underwent complete ophthalmic examinations and three males were diagnosed with CHM. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the two families and from 100 unrelated control subjects from the same population. Exons 1-15 of CHM were amplified by PCR and directly sequenced. Ophthalmic examinations included best-corrected visual acuity, slit-lamp examination, fundus examination, visual field, optical coherence tomography, electroretinogram, and Pentacam.

Results: The affected men were hemizygous and had night blindness, chorioretinal atrophy spreading from the posterior pole to the mid-periphery, and bareness of the sclera. A novel c.1488delGinsATAAC mutation was detected in CHM in family 1. Another mutation c.1703 C>G (S558X) within exon 14 of CHM was identified in family 2, which caused the serine 558 codon (TCA) to be changed to a stop codon (TGA).

Conclusions: This study identified a novel mutation in CHM associated with CHM and its related clinical features. Our findings expand the genotypic spectrum of CHM mutations associated with CHM and confirm the role of Rab escort protein-1 in the pathogenesis of CHM.

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Related in: MedlinePlus

Optical coherence tomography shows the retina of the proband to be thinner than normal; the signal was stronger in the some parts of the retina because of the choriocapillaris atrophy and the bare sclera (arrow).
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f3: Optical coherence tomography shows the retina of the proband to be thinner than normal; the signal was stronger in the some parts of the retina because of the choriocapillaris atrophy and the bare sclera (arrow).

Mentions: Visual field examination showed only a central 5 degrees of visual field (tunnel vision). OCT demonstrated that the retina of the proband was thinner than normal and the signal was stronger in some parts of the retina because of the choriocapillaris atrophy and the bare sclera (Figure 3). ERG showed no rod and cone responses according to the ERG standards of the International Society for Clinical Electrophysiology of Vision (ISCEV, 2008 Version) [19].


Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.

Lin Y, Liu X, Luo L, Qu B, Jiang S, Yang H, Liang X, Ye S, Liu Y - Mol. Vis. (2011)

Optical coherence tomography shows the retina of the proband to be thinner than normal; the signal was stronger in the some parts of the retina because of the choriocapillaris atrophy and the bare sclera (arrow).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3198496&req=5

f3: Optical coherence tomography shows the retina of the proband to be thinner than normal; the signal was stronger in the some parts of the retina because of the choriocapillaris atrophy and the bare sclera (arrow).
Mentions: Visual field examination showed only a central 5 degrees of visual field (tunnel vision). OCT demonstrated that the retina of the proband was thinner than normal and the signal was stronger in some parts of the retina because of the choriocapillaris atrophy and the bare sclera (Figure 3). ERG showed no rod and cone responses according to the ERG standards of the International Society for Clinical Electrophysiology of Vision (ISCEV, 2008 Version) [19].

Bottom Line: A novel c.1488delGinsATAAC mutation was detected in CHM in family 1.This study identified a novel mutation in CHM associated with CHM and its related clinical features.Our findings expand the genotypic spectrum of CHM mutations associated with CHM and confirm the role of Rab escort protein-1 in the pathogenesis of CHM.

View Article: PubMed Central - PubMed

Affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

ABSTRACT

Purpose: To investigate the choroideremia (CHM) gene in two families with CHM and to characterize the related clinical features.

Methods: Two families underwent complete ophthalmic examinations and three males were diagnosed with CHM. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the two families and from 100 unrelated control subjects from the same population. Exons 1-15 of CHM were amplified by PCR and directly sequenced. Ophthalmic examinations included best-corrected visual acuity, slit-lamp examination, fundus examination, visual field, optical coherence tomography, electroretinogram, and Pentacam.

Results: The affected men were hemizygous and had night blindness, chorioretinal atrophy spreading from the posterior pole to the mid-periphery, and bareness of the sclera. A novel c.1488delGinsATAAC mutation was detected in CHM in family 1. Another mutation c.1703 C>G (S558X) within exon 14 of CHM was identified in family 2, which caused the serine 558 codon (TCA) to be changed to a stop codon (TGA).

Conclusions: This study identified a novel mutation in CHM associated with CHM and its related clinical features. Our findings expand the genotypic spectrum of CHM mutations associated with CHM and confirm the role of Rab escort protein-1 in the pathogenesis of CHM.

Show MeSH
Related in: MedlinePlus