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  • Title: Consanguinity as an Adjunct Diagnostic Tool.
    Author: Srivastava P, Saxena D, Joshi S, Phadke SR.
    Journal: Indian J Pediatr; 2016 Mar; 83(3):258-60. PubMed ID: 26138576.
    Abstract:
    History of consanguinity is important in monogenic disorders as it supports autosomal recessive mode of inheritance. This case report illustrates the use of homozygosity mapping using single nucleotide polymorphism (SNP) microarray data to identify the causative gene in a case with Warburg Micro syndrome (WARBM). This syndrome has non-specific features like microcephaly and cataract; etiological diagnosis based on clinical features is not possible. Four causative genes are known for WARBM syndrome. In such a situation of autosomal recessive disorders of heterogeneous etiologies, SNP microarray and homozygosity mapping is a useful and cost effective strategy.
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