This paper references a pt from PMID: 12865757 which can no longer be accessed. Links/DOI say they're no longer found.

This paper uses in silico predictors to evaluate variants. Prediction is severe for this variant.

Case#: Bach Patient D2, Israel, Druze

DiseaseAssertion: MPS I, Hurler

FamilyInfo: parents are het carriers

CasePresentingHPOs:

CaseHPOFreeText: Severe disease described as: "manifested from late infancy by dysostosis multiplex, coarse facies, corneal opacities, cardiovascular disease, hepatosplenomegaly, joint stiffness, and mental retardation; death usually occurs in the first decade of life." However, no specific information provided about proband. Level of mRNA in patient fibroblasts was half that of the normal control after normalization for beta-actin

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: PCR amplification of reverse-transcribed RNA or genomic DNA segments, cycle sequencing of PCR products, and restriction-enzyme analysis

PreviouslyPublished: preliminary account of this data summarized in a previous abstract: PMID: 8477267

Variant: Gln310Ter homozygous

CAID: CA256115

SupplementalData: n/a

PVS1 evidence: RT-PCR showed a doublet "with the upper band slightly larger than the normal band (505bp). Sequence analysis demonstrated an admixture of species with 28nt of intronic sequence, indicating use of a cryptic splice site in intron 5." "This alternative splicing creates a frameshift and an open reading frame until exon 9"

This variant is mentioned in the text as not having been found in the Han Chinese.

This SNP is mentioned as clinically relevant for MPS I, but no patient data is reported.