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在一名患有广泛颅内钙化和低钙血症的个体中，一种新型变异与可能的致病变异同时出现。

Co-occurrence of a novel variant and likely pathogenic variant in in an individual with extensive intracranial calcifications and hypocalcaemia.

作者信息

DeMeo Natasha N, Burgess Jeremy D, Blackburn Patrick R, Gass Jennifer M, Richter John, Atwal Herjot K, van Gerpen Jay A, Atwal Paldeep S

机构信息

Department of Neuroscience Mayo Clinic Jacksonville Florida.

Center for Individualized Medicine Mayo Clinic Jacksonville Florida.

出版信息

Clin Case Rep. 2017 Nov 20;6(1):8-13. doi: 10.1002/ccr3.1265. eCollection 2018 Jan.

DOI:10.1002/ccr3.1265
PMID:29375828
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5771904/
Abstract

This case report describes an individual with brain calcifications, cognitive decline, motor dysfunction, and hypocalcaemia. Exome sequencing revealed a previously reported variant in the gene and a variant of uncertain significance in . The clinical phenotype is likely explained by the variant, but we discuss how the variant could also participate in the phenotype.

摘要

本病例报告描述了一名患有脑钙化、认知衰退、运动功能障碍和低钙血症的个体。外显子组测序揭示了该基因中一个先前报道过的变异以及另一个意义未明的变异。临床表型可能由该变异所解释，但我们讨论了另一个变异如何也可能参与了该表型的形成。

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Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
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