A Gene Causing Autosomal Recessive Cataract Maps to the Short Arm of Chromosome 3

Overview

Journal Isr Med Assoc J

Specialty General Medicine

Date 2001 Aug 25

PMID 11519376

Citations 25

Authors

E Pras

T Bakhan

E Levy-Nissenbaum

H Lahat

E I Assia

H J Garzozi

D L Kastner

B Goldman

M Frydman

Affiliations

Soon will be listed here.

Abstract

Background: Fourteen loci have been associated with autosomal dominant cataract, but only one with the recessive form of the disease.

Objectives: To find the chromosomal location of a gene causing autosomal recessive cataract in three inbred Arab families.

Methods: A single nucleotide polymorphism-based genome-wide search, with the Effvmetrix GeneChip HuSNP genotyping array, was performed on a pooled DNA sample from six affected family members in a search for regions showing homozygosity. Using conventional microsatellite markers, regions of homozygosity were further analyzed in all the families.

Results: A region on chromosome 3p spanning 43 megabases showed homozygosity with 13 consecutive SNPs. Three microsatellite markers from this region yielded lod scores > 3.00. A maximal two-point lod of 4.83 was obtained with the marker D3S1298 at theta = 0.004. Haplotype analysis placed the disease gene in a 20 Mb interval between D3S1768 and D3S2409.

Conclusions: A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.

Citing Articles

Two New Variants in FYCO1 Are Responsible for Autosomal Recessive Congenital Cataract in Iranian Population.

Shirzadeh E, Piryaei F, Naddaf H, Barabadi Z Cell J. 2022; 24(9):546-551.

PMID: 36274208 PMC: 9594866. DOI: 10.22074/cellj.2022.8116.

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.

Barashkov N, Konovalov F, Borisova T, Teryutin F, Solovyev A, Pshennikova V Eur J Hum Genet. 2021; 29(6):965-976.

PMID: 33767456 PMC: 8187664. DOI: 10.1038/s41431-021-00833-w.

Mutations in identified in families with congenital cataracts.

Iqbal H, Khan S, Zhou L, Irum B, Ali M, Ahmed M Mol Vis. 2020; 26:334-344.

PMID: 32355443 PMC: 7190580.

Genome-wide prediction and prioritization of human aging genes by data fusion: a machine learning approach.

Arabfard M, Ohadi M, Rezaei Tabar V, Delbari A, Kavousi K BMC Genomics. 2019; 20(1):832.

PMID: 31706268 PMC: 6842548. DOI: 10.1186/s12864-019-6140-0.

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Irum B, Khan S, Ali M, Daud M, Kabir F, Rauf B PLoS One. 2016; 11(12):e0167562.

PMID: 27936067 PMC: 5147899. DOI: 10.1371/journal.pone.0167562.