Consanguinity as an Adjunct Diagnostic Tool

History of consanguinityis important in monogenicdisorders as it supports autosomalrecessive mode of inheritance. This case report illustrates the use of homozygosity mapping using single nucleotide polymorphism(SNP) microarraydata to identify the causative gene in a case with Warburg Micro syndrome(WARBM). This syndrome has non-specific features like microcephalyand cataract; etiologicaldiagnosis based on clinical features is not possible. Four causativegenes are known for WARBM syndrome. In such a situation of autosomalrecessive disorders of heterogeneous etiologies, SNP microarrayand homozygosity mapping is a useful and cost effective strategy.