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Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
TLDR
DNA sequencing of LMNA in five Canadian FPLD probands indicated that each had a novel missense mutation, R482Q, which co-segregated with the F PLD phenotype and was absent from 2000 normal alleles, which suggests that LMNA mutations could underlie other diseases characterized by tissue type- and anatomical site-specific cellular degeneration.
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia
TLDR
An accumulation of rare variants, or a mutation skew, in GWAS-identified genes in individuals with hypertriglyceridemia are shown, and considering rare variants in these genes incrementally increased the proportion of genetic variation contributing to HTG.
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes
TLDR
Children with HGPS usually appear normal in early infancy, but at about six months of age begin to experience profound growth delay, and the skin acquires an abnormally aged appear- ance with prominent veins.
The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree.
TLDR
The presence of the private HNF-1alpha G319S variant in a large number of Oji-Cree with type 2 diabetes and its strong association with type 1 diabetes susceptibility are unique among human populations.
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)
TLDR
The strong association of rare LMNA coding sequence mutations with HGPS implicates this syndrome as a laminopathy, while WRS is most probably due to mutations in another gene.
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.
TLDR
The germline transmission of a transactivation-deficient mutation in PPARG suggests that autosomal dominant partial lipodystrophy is genetically heterogeneous, and is consistent with the idea that mutantPPARG can underlie the partial lipODYstrophy phenotype.
Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia
TLDR
Very rare CAV1 frameshift mutations appear to be associated with atypical lipodystrophy and hypertriglyceridemia.
Alstrom syndrome (OMIM 203800): a case report and literature review
TLDR
Two novel mutations in the ALMS1 gene causative for AS have been reported here, thereby increasing the number of reported mutations to 81 and providing a wider basis for mutational screening among affected individuals.
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically
TLDR
In a clinically ascertained sample with severe hypercholesterolemia, it was found that most patients had a discrete genetic basis detected using a comprehensive screening approach that includes targeted next-generation sequencing, an assay for copy number variations, and polygenic trait scores.
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.
TLDR
Four patients with acquired partial lipodystrophy are found with novel heterozygous mutations in LMNB2, the first reported among patients with APL, and indicate how sequencing of a reannotated candidate gene can reveal new disease-associated mutations.
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