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Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
Mol Vis. 2010 Apr 15; 16:682-8.MV

Abstract

PURPOSE

To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families.

METHODS

All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected family members and logarithm of odds (LOD) scores were calculated. All coding exons of galactokinase (GALK1) were sequenced to identify pathogenic lesions.

RESULTS

Clinical records and ophthalmological examinations suggested that affected individuals have nuclear cataracts. Linkage analysis localized the critical interval to chromosome 17q with a maximum LOD score of 5.54 at theta=0, with D17S785 in family PKCC030. Sequencing of GALK1, a gene present in the critical interval, identified a single base pair deletion: c.410delG, which results in a frame shift leading to a premature termination of GALK1: p.G137fsX27. Additionally, we identified a missense mutation: c.416T>C, in family PKCC055 that results in substitution of a leucine residue at position 139 with a proline residue: p.L139P, and is predicted to be deleterious to the native GALK1 structure.

CONCLUSIONS

Here, we report pathogenic mutations in GALK1 that are responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families.

Authors+Show Affiliations

National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

20405025

Citation

Yasmeen, Afshan, et al. "Autosomal Recessive Congenital Cataract in Consanguineous Pakistani Families Is Associated With Mutations in GALK1." Molecular Vision, vol. 16, 2010, pp. 682-8.
Yasmeen A, Riazuddin SA, Kaul H, et al. Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. Mol Vis. 2010;16:682-8.
Yasmeen, A., Riazuddin, S. A., Kaul, H., Mohsin, S., Khan, M., Qazi, Z. A., Nasir, I. A., Zafar, A. U., Khan, S. N., Husnain, T., Akram, J., Hejtmancik, J. F., & Riazuddin, S. (2010). Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. Molecular Vision, 16, 682-8.
Yasmeen A, et al. Autosomal Recessive Congenital Cataract in Consanguineous Pakistani Families Is Associated With Mutations in GALK1. Mol Vis. 2010 Apr 15;16:682-8. PubMed PMID: 20405025.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. AU - Yasmeen,Afshan, AU - Riazuddin,S Amer, AU - Kaul,Haiba, AU - Mohsin,Sadia, AU - Khan,Mohsin, AU - Qazi,Zaheeruddin A, AU - Nasir,Idrees A, AU - Zafar,Ahmad U, AU - Khan,Shaheen N, AU - Husnain,Tayyab, AU - Akram,Javed, AU - Hejtmancik,J Fielding, AU - Riazuddin,Sheikh, Y1 - 2010/04/15/ PY - 2009/09/01/received PY - 2010/04/09/accepted PY - 2010/4/21/entrez PY - 2010/4/21/pubmed PY - 2010/5/12/medline SP - 682 EP - 8 JF - Molecular vision JO - Mol. Vis. VL - 16 N2 - PURPOSE: To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families. METHODS: All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected family members and logarithm of odds (LOD) scores were calculated. All coding exons of galactokinase (GALK1) were sequenced to identify pathogenic lesions. RESULTS: Clinical records and ophthalmological examinations suggested that affected individuals have nuclear cataracts. Linkage analysis localized the critical interval to chromosome 17q with a maximum LOD score of 5.54 at theta=0, with D17S785 in family PKCC030. Sequencing of GALK1, a gene present in the critical interval, identified a single base pair deletion: c.410delG, which results in a frame shift leading to a premature termination of GALK1: p.G137fsX27. Additionally, we identified a missense mutation: c.416T>C, in family PKCC055 that results in substitution of a leucine residue at position 139 with a proline residue: p.L139P, and is predicted to be deleterious to the native GALK1 structure. CONCLUSIONS: Here, we report pathogenic mutations in GALK1 that are responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families. SN - 1090-0535 UR - https://www.unboundmedicine.com/medline/citation/20405025/Autosomal_recessive_congenital_cataract_in_consanguineous_Pakistani_families_is_associated_with_mutations_in_GALK1_ L2 - http://www.molvis.org/molvis/v16/a77/ DB - PRIME DP - Unbound Medicine ER -