PURPOSE: To describe phenotyping and linkage analysis results for available members from a consanguineous nuclear family with hereditary congenital strabismus. METHODS: Both parents and all 12 @entity1 underwent clinical examination. Available affected and several unaffected family members had venous blood sampling for DNA extraction and 10K single nucleotide polymorphism (SNP) genotyping (Affymetrix Gene Chip   @entity1 ). Multipoint logarithm of the odds (LOD) score calculations were performed assuming an autosomal recessive mode of inheritance with 100% penetrance and disease allele frequency of 0.01%. RESULTS: Three @entity1 had non-syndromic large-angle infantile @entity5971 without significant @entity3467 . A fourth @entity1 had left esotropic @entity2341 . A fifth @entity1 who had @entity5971 in the setting of prematurity and childhood @entity3328 was excluded from the analysis. A sixth @entity1 had @entity9042 and was excluded. Both parents and the remaining 6 @entity1 had no significant orthoptic or ophthalmic findings. Using linkage analysis including the 4 esotropic @entity1 , disease loci were mapped to regions on chromosomes 3p26.3-26.2 and 6q24.2-25.1 using multipoint linkage analysis with LOD scores of 3.18 and 3.25 respectively. Linkage to these regions persisted when the esotropic @entity2341 @entity1 was excluded from the linkage analysis (LOD scores of 2.00 and 2.32, respectively). CONCLUSIONS: Non-syndromic infantile @entity5971 could be related to susceptibility loci on chromosomal regions 3p26.3-26.2 and 6q24.2-25.1 and may share alleles that underlie @entity2341 .

Infantile @entity5971 could be oligogenic and allelic with XXXX .

@entity1 :: ('9606', 'Species') :: ['children', 'patient', 'Human', 'child'] @entity3328 :: ('MESH:D011051', 'Disease') :: ['poliomyelitis'] @entity3467 :: ('MESH:D006956', 'Disease') :: ['hyperopia'] @entity2341 :: ('MESH:D004370', 'Disease') :: ['Duane retraction syndrome'] @entity5971 :: ('MESH:D004948', 'Disease') :: ['esotropia'] @entity9042 :: ('MESH:D007640', 'Disease') :: ['keratoconus']
@entity2341 :: (MESH:D004370,Disease) :: ['Duane retraction syndrome']
