title: Consanguinity as an Adjunct Diagnostic Tool.
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.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India.
authors.forename: Priyanka
authors.initials: P
authors.lastname: Srivastava
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India.
authors.forename: Deepti
authors.initials: D
authors.lastname: Saxena
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India.
authors.forename: Stephen
authors.initials: S
authors.lastname: Joshi
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India. shubharaophadke@gmail.com.
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D003241:Consanguinity; D003315:Cornea / Q000002:abnormalities*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics*; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D020692:rab3 GTP-Binding Proteins / Q000235:genetics*
chemical_list: C580955:RAB3GAP1 protein, human; D020692:rab3 GTP-Binding Proteins
keywords: Homozygosity mapping; India; Loss of heterozygosity; Micro syndrome; Mutation; RAB3GAP1