Tags

Type your tag names separated by a space and hit enter

Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations.
Natl Med J India 2017 Mar-Apr; 30(2):73-75NM

Abstract

BACKGROUND

Presenile cataract is commonly idiopathic in origin. However, patients with presenile cataract could have an underlying genetic abnormality of galactose metabolism. We studied the association, if any, between idiopathic presenile cataract and galactose-1 -phosphate uridyl transferase (GALT) gene mutation.

METHODS

We selected 50 patients with idiopathic presenile cataract, <45 years of age, and 50 age- and sex-matched controls for the study. Mutations in the GALT gene were determined by polymerase chain reaction restriction fragment length polymorphism. The classical galactosaemia was characterized by Q188R and K285N mutations, whereas Duarte galactosaemia by N314D mutations (Duarte-2: N314D with IVS5-24G >A and Duarte-1: N314D without IVS5- 24G>A).

RESULTS

The most common mutation observed was the N314D (Duarte) mutation. The frequencies of classical and N31 4D alleles in patients with presenile cataract (16%) and controls (26%) were not statistically different (p=0.32, OR 0.54, 95% CI 0.20-1.45). Similarly, there was no statistically significant difference in the frequency distribution of Duarte-1 (p=0.77, OR 0.77, 95% CI 0.23-0.24) and Duarte-2 (p=0.44, OR 0.38, 95% CI 0.07-2.03) galactosaemia mutations in patients and controls.

CONCLUSION

Duarte galactosaemia, a milder form of the disease, is more common than classical galactosaemia in the Indian population. Duarte galactosaemia is unlikely to be a causative factor in presenile cataract.

Authors+Show Affiliations

Department of Ophthalmology, Sri Aurobindo Medical College and PG Institute, Indore Ujjain Highway, Indore, Madhya Pradesh, India.Central Research Laboratory, Sri Aurobindo Medical College and PG Institute, Indore Ujjain Highway, Indore, Madhya Pradesh, India.Department of Ophthalmology, Sri Aurobindo Medical College and PG Institute, Indore Ujjain Highway, Indore, Madhya Pradesh, India.Department of Ophthalmology, Sri Aurobindo Medical College and PG Institute, Indore Ujjain Highway, Indore, Madhya Pradesh, India.Central Research Laboratory, Sri Aurobindo Medical College and PG Institute, Indore Ujjain Highway, Indore, Madhya Pradesh, India.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28816213

Citation

Nema, Nitin, et al. "Association of Presenile Cataract With Galactose-1-phosphate Uridyl Transferase Gene Mutations." The National Medical Journal of India, vol. 30, no. 2, 2017, pp. 73-75.
Nema N, Kumar R, Verma A, et al. Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations. Natl Med J India. 2017;30(2):73-75.
Nema, N., Kumar, R., Verma, A., Verma, S., & Chaturvedi, K. (2017). Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations. The National Medical Journal of India, 30(2), pp. 73-75.
Nema N, et al. Association of Presenile Cataract With Galactose-1-phosphate Uridyl Transferase Gene Mutations. Natl Med J India. 2017;30(2):73-75. PubMed PMID: 28816213.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations. AU - Nema,Nitin, AU - Kumar,Ravindra, AU - Verma,Abha, AU - Verma,Sonam, AU - Chaturvedi,Kiran, PY - 2017/8/18/entrez PY - 2017/8/18/pubmed PY - 2019/1/23/medline SP - 73 EP - 75 JF - The National medical journal of India JO - Natl Med J India VL - 30 IS - 2 N2 - BACKGROUND: Presenile cataract is commonly idiopathic in origin. However, patients with presenile cataract could have an underlying genetic abnormality of galactose metabolism. We studied the association, if any, between idiopathic presenile cataract and galactose-1 -phosphate uridyl transferase (GALT) gene mutation. METHODS: We selected 50 patients with idiopathic presenile cataract, <45 years of age, and 50 age- and sex-matched controls for the study. Mutations in the GALT gene were determined by polymerase chain reaction restriction fragment length polymorphism. The classical galactosaemia was characterized by Q188R and K285N mutations, whereas Duarte galactosaemia by N314D mutations (Duarte-2: N314D with IVS5-24G >A and Duarte-1: N314D without IVS5- 24G>A). RESULTS: The most common mutation observed was the N314D (Duarte) mutation. The frequencies of classical and N31 4D alleles in patients with presenile cataract (16%) and controls (26%) were not statistically different (p=0.32, OR 0.54, 95% CI 0.20-1.45). Similarly, there was no statistically significant difference in the frequency distribution of Duarte-1 (p=0.77, OR 0.77, 95% CI 0.23-0.24) and Duarte-2 (p=0.44, OR 0.38, 95% CI 0.07-2.03) galactosaemia mutations in patients and controls. CONCLUSION: Duarte galactosaemia, a milder form of the disease, is more common than classical galactosaemia in the Indian population. Duarte galactosaemia is unlikely to be a causative factor in presenile cataract. SN - 0970-258X UR - https://www.unboundmedicine.com/medline/citation/28816213/Association_of_presenile_cataract_with_galactose_1_phosphate_uridyl_transferase_gene_mutations_ L2 - http://www.nmji.in/article.asp?issn=0970-258X;year=2017;volume=30;issue=2;spage=73;epage=75;aulast=Nema DB - PRIME DP - Unbound Medicine ER -