Homozygous Mutation in PRUNE1 in an Oji-Cree Male with a Complex Neurological Phenotype

被引：20

作者：

Costain, Gregory ^{[1
,2
]}

Shugar, Andrea ^{[2
,3
]}

Krishnan, Pradeep ^{[4
]}

Mahmutoglu, Saadet ^{[2
]}

Laughlin, Suzanne ^{[4
]}

Kannu, Peter ^{[2
,5
]}

机构：

[1] Univ Toronto, Med Genet Residency Training Program, Toronto, ON M5S 1A1, Canada

[2] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

[3] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

[4] Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON, Canada

[5] Univ Toronto, Inst Med Sci, Toronto, ON, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 03期

关键词：

PRUNE1; PRUNE; HTCD37; DRES17; founder effect; Cree; Ojibwe; brain structure; infantile spasms; whole-exome sequencing; DISORDERS; ENCEPHALITIS; DISEASE;

D O I：

10.1002/ajmg.a.38066

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The PRUNE1 gene encodes a member of the phosphoesterases (DHH) protein superfamily that is highly expressed in the human fetal brain and involved in the regulation of cell migration. Homozygous or compound heterozygous PRUNE1 mutations were recently identified in five individuals with brain malformations from four families. We present a case of a 2-year-old male with a complex neurological phenotype and abnormalities on brain MRI. Re-annotation of clinical whole-exome sequencing data revealed a homozygous likely pathogenic variant in PRUNE1 (c.521-2A>G). These results further delineate a new PRUNE1-related syndrome, and highlight the importance of periodic data re-annotation in individuals who remain without a diagnosis after undergoing genome-wide testing. (C) 2017 Wiley Periodicals, Inc.

引用

页码：740 / 743

页数：4

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