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Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.
Curr Eye Res. 2012 Oct; 37(10):949-54.CE

Abstract

PURPOSE

To establish the incidence and molecular basis of type II galactosemia in Indian infants presenting with congenital cataracts.

METHODS

200 infants with congenital cataracts were screed for galactokinase (GALK) enzyme deficiency. GALK enzyme activity was measured using radioactive galactose-1-(14)C and mutations were studied using polymerase chain reaction (PCR), single strand conformational polymorphism (SSCP) and subsequent DNA sequencing.

RESULTS

16 (8%) out of 200 infants with congenital cataracts were found to be GALK deficient with male: female:: 9:7. A significantly reduced GALK activity of 0.13 ± 0.04 µmoles/h/mL was observed in the galactosemia patients compared to 0.232 ± 0.07 µmoles/h/mL in the normal controls. A total of 5 distinct mutations were identified in GALK gene in five different patients out of which four were novel mutations viz. S79F, S79Y, S205S and F275Y. The functional significance of the mutations and splicing defects associated with them were investigated using different computer based applications.

CONCLUSION

The study highlighted the importance of GALK gene analysis in diagnosis of galactosemia in Indian population. It also revealed that the mutational profile of Indian GALK patients differs significantly from other populations studied. Low mutation detection rate observed in this study may be due to the fact that SSCP is a quite indirect and non-fullproof method of mutation detection.

Authors+Show Affiliations

Department of Biochemistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22632133

Citation

Singh, Ramandeep, et al. "Galactokinase Deficiency Induced Cataracts in Indian Infants: Identification of 4 Novel Mutations in GALK Gene." Current Eye Research, vol. 37, no. 10, 2012, pp. 949-54.
Singh R, Ram J, Kaur G, et al. Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene. Curr Eye Res. 2012;37(10):949-54.
Singh, R., Ram, J., Kaur, G., & Prasad, R. (2012). Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene. Current Eye Research, 37(10), 949-54. https://doi.org/10.3109/02713683.2012.688162
Singh R, et al. Galactokinase Deficiency Induced Cataracts in Indian Infants: Identification of 4 Novel Mutations in GALK Gene. Curr Eye Res. 2012;37(10):949-54. PubMed PMID: 22632133.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene. AU - Singh,Ramandeep, AU - Ram,Jagat, AU - Kaur,Gurjit, AU - Prasad,Rajendra, Y1 - 2012/05/25/ PY - 2012/5/29/entrez PY - 2012/5/29/pubmed PY - 2013/1/25/medline SP - 949 EP - 54 JF - Current eye research JO - Curr Eye Res VL - 37 IS - 10 N2 - PURPOSE: To establish the incidence and molecular basis of type II galactosemia in Indian infants presenting with congenital cataracts. METHODS: 200 infants with congenital cataracts were screed for galactokinase (GALK) enzyme deficiency. GALK enzyme activity was measured using radioactive galactose-1-(14)C and mutations were studied using polymerase chain reaction (PCR), single strand conformational polymorphism (SSCP) and subsequent DNA sequencing. RESULTS: 16 (8%) out of 200 infants with congenital cataracts were found to be GALK deficient with male: female:: 9:7. A significantly reduced GALK activity of 0.13 ± 0.04 µmoles/h/mL was observed in the galactosemia patients compared to 0.232 ± 0.07 µmoles/h/mL in the normal controls. A total of 5 distinct mutations were identified in GALK gene in five different patients out of which four were novel mutations viz. S79F, S79Y, S205S and F275Y. The functional significance of the mutations and splicing defects associated with them were investigated using different computer based applications. CONCLUSION: The study highlighted the importance of GALK gene analysis in diagnosis of galactosemia in Indian population. It also revealed that the mutational profile of Indian GALK patients differs significantly from other populations studied. Low mutation detection rate observed in this study may be due to the fact that SSCP is a quite indirect and non-fullproof method of mutation detection. SN - 1460-2202 UR - https://www.unboundmedicine.com/medline/citation/22632133/Galactokinase_deficiency_induced_cataracts_in_Indian_infants:_identification_of_4_novel_mutations_in_GALK_gene_ DB - PRIME DP - Unbound Medicine ER -