title: Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.
abstract: Band like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a distinct neuroradiological phenotype initially reported as a pseudo-TORCH syndrome and known to result from biallelic mutations in the Occludin(OCLN) gene. This is report of a family of Indian origin with two affected sibs and segregation of a homozygous novel OCLN mutation in the exon 3(NG_028291.1(OCLN_v001):c.252delC). A literature review suggests that renal dysfunction may be an unrecognized phenotypic manifestation of OCLN mutations and monitoring for the same should form part of the clinical care of these individuals.
authors.affiliation: Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana 500082, India; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India. Electronic address: shagun.genetics@gmail.com.
authors.forename: Shagun
authors.initials: S
authors.lastname: Aggarwal
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India; Graduate Studies, Manipal University, Manipal, India.
authors.forename: Ashish
authors.initials: A
authors.lastname: Bahal
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Ashwin
authors.initials: A
authors.lastname: Dalal
mesh_terms: D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D001921:Brain / Q000473:pathology; D003241:Consanguinity; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D007668:Kidney / Q000503:physiopathology*; D008297:Male; D009421:Nervous System Malformations / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D062793:Occludin / Q000235:genetics*; D017354:Point Mutation; D065706:Polymicrogyria / Q000235:genetics
chemical_list: C568985:OCLN protein, human; D062793:Occludin
keywords: Band like calcification with simplified gyration and polymicrogyria; Occludin; Pseudo TORCH syndrome; Renal dysfunction