rs281875319

This is a variant in the PYCR1 gene that changes a glycine to an glutamate.

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ClinVar annotation

Pathogenic★☆☆☆
4 submitters3 publications

PYCR1-related de Barsy syndrome; not specified

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Research that mentions this SNP (1)

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Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome
Case reportN=1Dar‐Shong Lin et al.(2011)· American Journal of Medical Genetics Part A

A 6-year-old Chinese male with De Barsy syndrome (DBS) was found to carry compound heterozygous PYCR1 mutations: c.345delC (p.P115fsX7) and two missense mutations in cis (c.743G>A, p.G248E; c.889G>A, p.G297R). This case expands the phenotypic spectrum of DBS by documenting congenital glaucoma, aortic root dilatation, and idiopathic hypertrophic pyloric stenosis. PYCR1 mRNA and protein expression were reduced to approximately 40% of normal in skin fibroblasts.

Traits studied:De Barsy syndromeaortic root dilatationcongenital glaucomacutis laxaidiopathic hypertrophic pyloric stenosisprogeroid features
PubMedDOIMetascience Observatory

About PYCR1

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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