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Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.

Abstract：

:Primary familial brain calcification (PFBC) is a genetically heterogeneous disorder characterized by bilateral calcifications in the basal ganglia and other brain regions. The genetic basis of this disorder remains unknown in a significant portion of familial cases. Here, we reported a recessive causal gene, MYORG, for PFBC. Compound heterozygous or homozygous mutations of MYORG co-segregated completely with PFBC in six families, with logarithm of odds (LOD) score of 4.91 at the zero recombination fraction. In mice, Myorg mRNA was expressed specifically in S100β-positive astrocytes, and knockout of Myorg induced the formation of brain calcification at 9 months of age. Our findings provide strong evidence that loss-of-function mutations of MYORG cause brain calcification in humans and mice.

journal_name

Neuron

journal_title

Neuron

authors

Yao XP,Cheng X,Wang C,Zhao M,Guo XX,Su HZ,Lai LL,Zou XH,Chen XJ,Zhao Y,Dong EL,Lu YQ,Wu S,Li X,Fan G,Yu H,Xu J,Wang N,Xiong ZQ,Chen WJ

doi

10.1016/j.neuron.2018.05.037

subject

Has Abstract

pub_date

2018-06-27 00:00:00

pages

1116-1123.e5

issue

6

eissn

0896-6273

issn

1097-4199

pii

S0896-6273(18)30435-5

journal_volume

98

pub_type

杂志文章

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