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: Shagun Aggarwal, Ashish Bahal, Ashwin Dalal
• Journal: European journal of medical genetics (Eur J Med Genet) Vol. 59 Issue 1 Pg. 5-10 (Jan 2016) ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 26689621 (Publication Type: Case Reports, Letter, Review)
• Copyright: Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Chemical References

• OCLN protein, human
• Occludin

Topics

• Autoimmune Diseases of the Nervous System (genetics, pathology, physiopathology)
• Brain (pathology)
• Consanguinity
• Exons
• Female
• Frameshift Mutation
• Gene Deletion
• Humans
• Kidney (physiopathology)
• Male
• Nervous System Malformations (genetics, pathology, physiopathology)
• Occludin (genetics)
• Point Mutation
• Polymicrogyria (genetics)