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Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus

View Article: PubMed Central - PubMed

ABSTRACT

Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA extraction. Three genes, RDH5, RLBP1 and RPE65, were screened by direct sequencing. Mutations in RDH5 were identified in three families and mutations in RPE65 were identified in one family. This is the second reported case of FA caused by mutations in RPE65.

No MeSH data available.


DNA sequences of RDH5 and RPE65 in affected individuals and controls.A homozygous c.928delCinsGAAG (Leu310 to GluVal) mutation of RDH5 in family 1. Two heterozygous mutations of RDH5, c.500 G > A (p.Arg167His) and c.719ins G (p.Ala240Glyfs17), in family 2. Two heterozygous mutations of RDH5, c.928delCinsGAAG (Leu310 to GluVal) and c.500 G > A (p.Arg167His), in family 3. Two heterozygous mutations of RPE65, c.639_640insA and c.982 C > T (L328F), in family 4.
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f8: DNA sequences of RDH5 and RPE65 in affected individuals and controls.A homozygous c.928delCinsGAAG (Leu310 to GluVal) mutation of RDH5 in family 1. Two heterozygous mutations of RDH5, c.500 G > A (p.Arg167His) and c.719ins G (p.Ala240Glyfs17), in family 2. Two heterozygous mutations of RDH5, c.928delCinsGAAG (Leu310 to GluVal) and c.500 G > A (p.Arg167His), in family 3. Two heterozygous mutations of RPE65, c.639_640insA and c.982 C > T (L328F), in family 4.

Mentions: Mutations of RDH5 were identified in three families, including a homozygous c.928delCinsGAAG (Leu310 to GluVal) mutation in family 1, heterozygous c.500 G > A (p.Arg167His) and c.719insG (p.Ala240Glyfs17) mutations in family 2 and heterozygous c.928delCinsGAAG (Leu310 to GluVal) and c.500 G > A (p.Arg167His) mutations in family 3. In family 1, mother and father both carried the c.928delCinsGAAG mutation. In family 2, the father carried c.500 G > A mutation and the mother carried the c.719insG mutation respectively. Mutations of RPE65 were identified in family 4, including heterozygous c.639_640insA and L328F mutations (Fig. 8). The c.639_640insA was predicted to lead to premature stop codons (p.A214Sfs20) and cause a loss of function. The p.L328F change is predicted to damage the function of RPE65 when analysed using SIFT (0.998) and Polyphen-2 (0.01) websites.


Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus
DNA sequences of RDH5 and RPE65 in affected individuals and controls.A homozygous c.928delCinsGAAG (Leu310 to GluVal) mutation of RDH5 in family 1. Two heterozygous mutations of RDH5, c.500 G > A (p.Arg167His) and c.719ins G (p.Ala240Glyfs17), in family 2. Two heterozygous mutations of RDH5, c.928delCinsGAAG (Leu310 to GluVal) and c.500 G > A (p.Arg167His), in family 3. Two heterozygous mutations of RPE65, c.639_640insA and c.982 C > T (L328F), in family 4.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5385556&req=5

f8: DNA sequences of RDH5 and RPE65 in affected individuals and controls.A homozygous c.928delCinsGAAG (Leu310 to GluVal) mutation of RDH5 in family 1. Two heterozygous mutations of RDH5, c.500 G > A (p.Arg167His) and c.719ins G (p.Ala240Glyfs17), in family 2. Two heterozygous mutations of RDH5, c.928delCinsGAAG (Leu310 to GluVal) and c.500 G > A (p.Arg167His), in family 3. Two heterozygous mutations of RPE65, c.639_640insA and c.982 C > T (L328F), in family 4.
Mentions: Mutations of RDH5 were identified in three families, including a homozygous c.928delCinsGAAG (Leu310 to GluVal) mutation in family 1, heterozygous c.500 G > A (p.Arg167His) and c.719insG (p.Ala240Glyfs17) mutations in family 2 and heterozygous c.928delCinsGAAG (Leu310 to GluVal) and c.500 G > A (p.Arg167His) mutations in family 3. In family 1, mother and father both carried the c.928delCinsGAAG mutation. In family 2, the father carried c.500 G > A mutation and the mother carried the c.719insG mutation respectively. Mutations of RPE65 were identified in family 4, including heterozygous c.639_640insA and L328F mutations (Fig. 8). The c.639_640insA was predicted to lead to premature stop codons (p.A214Sfs20) and cause a loss of function. The p.L328F change is predicted to damage the function of RPE65 when analysed using SIFT (0.998) and Polyphen-2 (0.01) websites.

View Article: PubMed Central - PubMed

ABSTRACT

Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA extraction. Three genes, RDH5, RLBP1 and RPE65, were screened by direct sequencing. Mutations in RDH5 were identified in three families and mutations in RPE65 were identified in one family. This is the second reported case of FA caused by mutations in RPE65.

No MeSH data available.