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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

The pedigree of Chinese families with choroideremia. Square symbols denote males, and circular symbols denote females. The shaded symbols indicate ophthalmologist-confirmed choroideremia (CHM). The circles with a dot indicate female carriers. The arrow points to the proband. The transmission pattern suggested that the CHM was inherited in an X-linked hereditary manner. Panel A represents Family 1, panel B represents Family 2.
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f1: The pedigree of Chinese families with choroideremia. Square symbols denote males, and circular symbols denote females. The shaded symbols indicate ophthalmologist-confirmed choroideremia (CHM). The circles with a dot indicate female carriers. The arrow points to the proband. The transmission pattern suggested that the CHM was inherited in an X-linked hereditary manner. Panel A represents Family 1, panel B represents Family 2.

Mentions: Two families were diagnosed as having CHM (Figure 1) at the Zhongshan Ophthalmic Center. We performed the ophthalmic examinations as follows: Visual acuity was examined using the ETDRS chart (Precision Vision, La Salle, IL). Fundus photograph and fundus fluorescein angiography imaging was performed using a Heidelberg Retina Angiograph (Heidelberg Engineering, Heidelberg, Germany). The NIHON KOHDEN electroretinogram (ERG) system (Neuropack, Tokyo, Japan) was used to assess the amplitudes of the rod and cone responses, and optical coherence tomography (OCT) scans (TOPCON, Tokyo, Japan) were used to assess the thickness and pathology of the posterior pole of the retina. Anterior segment measurements were measured with Pentacam HR version 70700 (Oculus, Weltzar, Germany). In addition, physical examinations were performed to exclude systemic diseases.


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)

The pedigree of Chinese families with choroideremia. Square symbols denote males, and circular symbols denote females. The shaded symbols indicate ophthalmologist-confirmed choroideremia (CHM). The circles with a dot indicate female carriers. The arrow points to the proband. The transmission pattern suggested that the CHM was inherited in an X-linked hereditary manner. Panel A represents Family 1, panel B represents Family 2.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f1: The pedigree of Chinese families with choroideremia. Square symbols denote males, and circular symbols denote females. The shaded symbols indicate ophthalmologist-confirmed choroideremia (CHM). The circles with a dot indicate female carriers. The arrow points to the proband. The transmission pattern suggested that the CHM was inherited in an X-linked hereditary manner. Panel A represents Family 1, panel B represents Family 2.
Mentions: Two families were diagnosed as having CHM (Figure 1) at the Zhongshan Ophthalmic Center. We performed the ophthalmic examinations as follows: Visual acuity was examined using the ETDRS chart (Precision Vision, La Salle, IL). Fundus photograph and fundus fluorescein angiography imaging was performed using a Heidelberg Retina Angiograph (Heidelberg Engineering, Heidelberg, Germany). The NIHON KOHDEN electroretinogram (ERG) system (Neuropack, Tokyo, Japan) was used to assess the amplitudes of the rod and cone responses, and optical coherence tomography (OCT) scans (TOPCON, Tokyo, Japan) were used to assess the thickness and pathology of the posterior pole of the retina. Anterior segment measurements were measured with Pentacam HR version 70700 (Oculus, Weltzar, Germany). In addition, physical examinations were performed to exclude systemic diseases.

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