Potential Linkage of Different Phenotypic Forms of Childhood Strabismus to a Recessive Susceptibility Locus (16p13.12-p12.3)

Overview

Journal Mol Vis

Specialties Cell Biology
Molecular Biology
Ophthalmology

Date 2011 May 5

PMID 21541264

Citations 12

Authors

Arif O Khan

Jameela Shinwari

Nada Abu Dhaim

Dania Khalil

Latifa Al Sharif

Nada Al Tassan

Affiliations

Soon will be listed here.

Abstract

Purpose: To perform linkage analysis on an inbred family with members who exhibit different phenotypic forms of childhood strabismus.

Methods: Prospective clinical examination and linkage analysis.

Results: three of the ten siblings and their cousin each had a different phenotypic form of childhood strabismus: infantile esotropia with convergence excess, esotropia associated with anisometropic amblyopia, unilateral esotropic Duane syndrome, and monocular elevation deficiency. Linkage analysis for the four strabismic individuals, an unaffected sibling, and the unaffected parents identified a single disease locus on chromosome 16p13.12-p12.3 (Ensembl cytogenetic band) with a 2.5 maximum logarithm of odds score. The region is 6 MB in size and comprises 80 genes.

Discussion: Linkage analysis in this unique family suggests that childhood strabismus can be recessive and that different phenotypic forms of childhood strabismus can share the same underlying genotype.

Citing Articles

Genome-Wide Association Study with Three Control Cohorts of Japanese Patients with Esotropia and Exotropia of Comitant Strabismus and Idiopathic Superior Oblique Muscle Palsy.

Matsuo T, Hamasaki I, Kamatani Y, Kawaguchi T, Yamaguchi I, Matsuda F Int J Mol Sci. 2024; 25(13).

PMID: 39000095 PMC: 11241339. DOI: 10.3390/ijms25136986.

Role of Abelson Helper Integration Site 1, Nebulin, and Paired Box 3 Genes in the Development of Nonsyndromic Strabismus in a Series of Iranian Families: Sequence Analysis and Systematic Review of the Genetics of Nonsyndromic Strabismus.

Rahpeyma M, Sabermoghaddam A, Kiarudi M, Aghabozorgi A, Pasdar A J Curr Ophthalmol. 2024; 35(3):216-225.

PMID: 38681684 PMC: 11047811. DOI: 10.4103/joco.joco_53_22.

Genetics of strabismus.

Martinez Sanchez M, Whitman M Front Ophthalmol (Lausanne). 2024; 3.

PMID: 38500555 PMC: 10947184. DOI: 10.3389/fopht.2023.1233866.

Whole Exome-Sequencing of Pooled Genomic DNA Samples to Detect Quantitative Trait Loci in Esotropia and Exotropia of Strabismus in Japanese.

Zhang J, Matsuo T, Hamasaki I, Sato K Life (Basel). 2022; 12(1).

PMID: 35054434 PMC: 8777842. DOI: 10.3390/life12010041.

Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.

Ye X, Roslin N, Paterson A, Lyons C, Pegado V, Richmond P J Med Genet. 2020; 59(1):46-55.

PMID: 33257509 PMC: 8685624. DOI: 10.1136/jmedgenet-2020-107226.

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