Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature

Eur J Med Genet. 2016 Jan;59(1):5-10. doi: 10.1016/j.ejmg.2015.11.014. Epub 2015 Dec 12.

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.

Keywords: Band like calcification with simplified gyration and polymicrogyria; Occludin; Pseudo TORCH syndrome; Renal dysfunction.

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

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

Substances

  • OCLN protein, human
  • Occludin

Supplementary concepts

  • Aicardi-Goutieres syndrome