期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 59, 期 1, 页码 5-10出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2015.11.014
关键词
Occludin; Band like calcification with simplified gyration and polymicrogyria; Renal dysfunction; Pseudo TORCH syndrome
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. (C) 2015 Elsevier Masson SAS. All rights reserved.
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