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Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

Kodaganur SG, Kapoor S, Veerappa AM, Tontanahal SJ, Sarda A, Yathish S, Prakash DR, Kumar A - Mol. Vis. (2013)

Bottom Line: This study increases the mutation spectrum of the SLC4A11 gene.Most of the mutations are missense, followed by insertions-deletions.The present study will be helpful in genetic diagnosis of the families reported here.

View Article: PubMed Central - PubMed

Affiliation: Minto Eye Hospital, Bangalore Medical College and Research Institute, Bangalore India.

ABSTRACT

Purpose: Congenital hereditary endothelial dystrophy 2 (CHED2) is an autosomal recessive disorder caused by mutations in the solute carrier family 4, sodium borate transporter, member 11 (SLC4A11) gene. The purpose of this study was to identify the genetic cause of CHED2 in six Indian families and catalog all known mutations in the SLC4A11 gene.

Methods: Peripheral blood samples were collected from individuals of the families with CHED2 and used in genomic DNA isolation. PCR primers were used to amplify the entire coding region including intron-exon junctions of SLC4A11. Amplicons were subsequently sequenced to identify the mutations.

Results: DNA sequence analysis of the six families identified four novel (viz., p.Thr262Ile, p.Gly417Arg, p.Cys611Arg, and p.His724Asp) mutations and one known p.Arg869His homozygous mutation in the SLC4A11 gene. The mutation p.Gly417Arg was identified in two families.

Conclusions: This study increases the mutation spectrum of the SLC4A11 gene. A review of the literature showed that the total number of mutations in the SLC4A11 gene described to date is 78. Most of the mutations are missense, followed by insertions-deletions. The present study will be helpful in genetic diagnosis of the families reported here.

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Related in: MedlinePlus

Clinical features of affected individual II-1 from family 7. A: Cornea showing opacification. B: Slit-lamp examination of the cornea showing thickening and opacification.
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f2: Clinical features of affected individual II-1 from family 7. A: Cornea showing opacification. B: Slit-lamp examination of the cornea showing thickening and opacification.

Mentions: We recruited seven patients from six consanguineous families (Figure 1), three boys and four girls, aged 3-6 years, at the Minto Eye Hospital, Bangalore, Karnataka. Consanguinity was due to maternal uncle and niece marriage in all the families. All family members were examined in detail by D. Ravi Prakash and S. Yathish. Their state of health at the time of recruitment was good with the exception that all affected individuals from six families had congenital bilateral cloudy cornea (Figure 2). None of the parents had cloudy cornea or any other systemic involvement.


Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

Kodaganur SG, Kapoor S, Veerappa AM, Tontanahal SJ, Sarda A, Yathish S, Prakash DR, Kumar A - Mol. Vis. (2013)

Clinical features of affected individual II-1 from family 7. A: Cornea showing opacification. B: Slit-lamp examination of the cornea showing thickening and opacification.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3733908&req=5

f2: Clinical features of affected individual II-1 from family 7. A: Cornea showing opacification. B: Slit-lamp examination of the cornea showing thickening and opacification.
Mentions: We recruited seven patients from six consanguineous families (Figure 1), three boys and four girls, aged 3-6 years, at the Minto Eye Hospital, Bangalore, Karnataka. Consanguinity was due to maternal uncle and niece marriage in all the families. All family members were examined in detail by D. Ravi Prakash and S. Yathish. Their state of health at the time of recruitment was good with the exception that all affected individuals from six families had congenital bilateral cloudy cornea (Figure 2). None of the parents had cloudy cornea or any other systemic involvement.

Bottom Line: This study increases the mutation spectrum of the SLC4A11 gene.Most of the mutations are missense, followed by insertions-deletions.The present study will be helpful in genetic diagnosis of the families reported here.

View Article: PubMed Central - PubMed

Affiliation: Minto Eye Hospital, Bangalore Medical College and Research Institute, Bangalore India.

ABSTRACT

Purpose: Congenital hereditary endothelial dystrophy 2 (CHED2) is an autosomal recessive disorder caused by mutations in the solute carrier family 4, sodium borate transporter, member 11 (SLC4A11) gene. The purpose of this study was to identify the genetic cause of CHED2 in six Indian families and catalog all known mutations in the SLC4A11 gene.

Methods: Peripheral blood samples were collected from individuals of the families with CHED2 and used in genomic DNA isolation. PCR primers were used to amplify the entire coding region including intron-exon junctions of SLC4A11. Amplicons were subsequently sequenced to identify the mutations.

Results: DNA sequence analysis of the six families identified four novel (viz., p.Thr262Ile, p.Gly417Arg, p.Cys611Arg, and p.His724Asp) mutations and one known p.Arg869His homozygous mutation in the SLC4A11 gene. The mutation p.Gly417Arg was identified in two families.

Conclusions: This study increases the mutation spectrum of the SLC4A11 gene. A review of the literature showed that the total number of mutations in the SLC4A11 gene described to date is 78. Most of the mutations are missense, followed by insertions-deletions. The present study will be helpful in genetic diagnosis of the families reported here.

Show MeSH
Related in: MedlinePlus