rs886039608
This variant is located in the PRUNE1 gene.
▶ClinVar annotation
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA); PRUNE1-related disorder
View on ClinVar →▶Research that mentions this SNP (1)
▶A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree familiesCase reportN=9Jessica N. Hartley et al.(2019)· American Journal of Medical Genetics Part A
A homozygous canonical splice acceptor site mutation in PRUNE1 (c.521-2A>G, rs886039608) was identified in 9 Cree children from Manitoba with a severe neurodegenerative disease combining neuromuscular and central nervous system involvement. The mutation produces abnormal mRNA products through alternative splicing, resulting in clinical features including hypotonia, contractures, seizures, spasticity, and respiratory insufficiency, with manifestation as both a neurodevelopmental and progressive neurodegenerative disorder affecting motor neurons.
About PRUNE1
This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
View all PRUNE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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