Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype-Reference-Cited by-同舟云学术

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Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype

Published:2017-02-17 Issue:3 Volume:173 Page:740-743
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Costain Gregory¹²,Shugar Andrea²³,Krishnan Pradeep⁴,Mahmutoglu Saadet²,Laughlin Suzanne⁴,Kannu Peter²⁵

Affiliation:

1. Medical Genetics Residency Training Program; University of Toronto; Ontario Canada

2. Division of Clinical and Metabolic Genetics; The Hospital for Sick Children; Ontario Canada

3. Department of Molecular Genetics; University of Toronto; Ontario Canada

4. Department of Diagnostic Imaging; The Hospital for Sick Children; Ontario Canada

5. Institute of Medical Sciences; University of Toronto; Ontario Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference13 articles.

1. Encephalitis among Cree children in northern Quebec;Black;Ann Neurol,1988

2. Centiles for adult head circumference;Bushby;Arch Dis Child,1992

3. Cree encephalitis is allelic with Aicardi-Goutieres syndrome: Implications for the pathogenesis of disorders of interferon alpha metabolism;Crow;J Med Genet,2003

4. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus;Fogli;Ann Neurol,2002

5. Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease;Karaca;Neuron,2015

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1. Neuroimaging in PRUNE1 syndrome: a mini-review of the literature;Frontiers in Neurology;2023-12-21

2. Generation of Conditional Knockout Alleles for PRUNE-1;Cells;2023-02-06

3. Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene;BMC Medical Genomics;2022-04-04

4. PRUNE1 c. 933G >A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature;American Journal of Medical Genetics Part A;2022-02-23

5. Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors;Frontiers in Oncology;2021-10-22

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