title: Reconciling genotype with phenotype: Lessons learned on the Arabian Peninsula.
abstract: On the Arabian Peninsula, where consanguineous/endogamous marriages are customary, hereditary eye disease is often autosomal recessive and genotype-phenotype correlation is typically straightforward. However, this is not always the case. Lessons I have learned in the course of reconciling genotype with phenotype in the region include the following: (1) although autosomal recessive disease is common, autosomal dominant disease still occurs; (2) an individual or family can be affected by more than one genetic eye disease; and (3) phenotype trumps genotype.
authors.affiliation: a Eye Institute , Cleveland Clinic Abu Dhabi , Abu Dhabi , United Arab Emirates.
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
mesh_terms: D018643:Arab World; D003241:Consanguinity; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008877:Middle East; D009030:Mosaicism; D009154:Mutation; D010375:Pedigree
chemical_list: D005136:Eye Proteins
keywords: Arabian Peninsula; consanguinity; genotype; phenotype