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Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Mol Vis 2011; 17:1940-5MV

Abstract

PURPOSE

To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family.

METHODS

The diagnosis was established in all affected individuals of a Pakistani LCA family by medical history, funduscopy, and standard ERG. We performed genome-wide linkage analysis for mapping the disease locus in this family.

RESULTS

Congenitally severely reduced visual acuity and nystagmus were reported for all patients who, in the later phase of the disease, also developed cataracts. LCA in the family cosegregated with homozygosity for a single nucleotide polymorphism (SNP) haplotype on chromosome 6p14.1. The respective candidate region contained Leber congenital amaurosis 5 (LCA5), a gene previously reported to underlie LCA. We subsequently identified a novel truncating mutation in exon 4 of LCA5, c.642delC, in homozygous state in all affected persons of the family.

CONCLUSIONS

We report a novel LCA5 mutation causing LCA in a Pakistani family. Developmental cataracts were present in two of the four patients, raising the possibility that LCA5 mutations may predispose to this additional ocular pathology.

Authors+Show Affiliations

Department of Biotechnology and Informatics, BUITEMS, Quetta, 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 available

Pub Type(s)

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

Language

eng

PubMed ID

21850168

Citation

Ahmad, Adeel, et al. "Identification of a Novel LCA5 Mutation in a Pakistani Family With Leber Congenital Amaurosis and Cataracts." Molecular Vision, vol. 17, 2011, pp. 1940-5.
Ahmad A, Daud S, Kakar N, et al. Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. Mol Vis. 2011;17:1940-5.
Ahmad, A., Daud, S., Kakar, N., Nürnberg, G., Nürnberg, P., Babar, M. E., ... Bolz, H. J. (2011). Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. Molecular Vision, 17, pp. 1940-5.
Ahmad A, et al. Identification of a Novel LCA5 Mutation in a Pakistani Family With Leber Congenital Amaurosis and Cataracts. Mol Vis. 2011;17:1940-5. PubMed PMID: 21850168.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. AU - Ahmad,Adeel, AU - Daud,Shakeela, AU - Kakar,Naseebullah, AU - Nürnberg,Gudrun, AU - Nürnberg,Peter, AU - Babar,Masroor Ellahi, AU - Thoenes,Michaela, AU - Kubisch,Christian, AU - Ahmad,Jamil, AU - Bolz,Hanno Jörn, Y1 - 2011/07/16/ PY - 2011/06/10/received PY - 2011/07/10/accepted PY - 2011/8/19/entrez PY - 2011/8/19/pubmed PY - 2011/12/13/medline SP - 1940 EP - 5 JF - Molecular vision JO - Mol. Vis. VL - 17 N2 - PURPOSE: To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family. METHODS: The diagnosis was established in all affected individuals of a Pakistani LCA family by medical history, funduscopy, and standard ERG. We performed genome-wide linkage analysis for mapping the disease locus in this family. RESULTS: Congenitally severely reduced visual acuity and nystagmus were reported for all patients who, in the later phase of the disease, also developed cataracts. LCA in the family cosegregated with homozygosity for a single nucleotide polymorphism (SNP) haplotype on chromosome 6p14.1. The respective candidate region contained Leber congenital amaurosis 5 (LCA5), a gene previously reported to underlie LCA. We subsequently identified a novel truncating mutation in exon 4 of LCA5, c.642delC, in homozygous state in all affected persons of the family. CONCLUSIONS: We report a novel LCA5 mutation causing LCA in a Pakistani family. Developmental cataracts were present in two of the four patients, raising the possibility that LCA5 mutations may predispose to this additional ocular pathology. SN - 1090-0535 UR - https://www.unboundmedicine.com/medline/citation/21850168/Identification_of_a_novel_LCA5_mutation_in_a_Pakistani_family_with_Leber_congenital_amaurosis_and_cataracts_ L2 - http://www.molvis.org/molvis/v17/a211/ DB - PRIME DP - Unbound Medicine ER -