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

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• 作者：Shagun Aggarwal ; ^{shagun.genetics@gmail.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Occludin ; Band like calcification with simplified gyration and polymicrogyria ; Renal dysfunction ; Pseudo TORCH syndrome
• 刊名：European Journal of Medical Genetics
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：59
• 期：1
• 页码：5-10
• 全文大小：2146 K

文摘

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.