Quantitative analysis of brain atrophy in patients with xeroderma pigmentosum group A carrying the founder mutation in Japan
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.08.3238
Abstract: INTRODUCTION Xeroderma pigmentosum (XP) is an inherited congenital disease presenting with dermatological and neurological manifestations. In Japan, XP complementation group A (XP-A) is most frequently observed in eight clinical subtypes, and the homozygous founder mutation,… read more here.
Keywords: atrophy patients; brain; brain atrophy; founder mutation ... See more keywords
A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular immunology"
DOI: 10.1016/j.molimm.2017.06.248
Abstract: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Mutations in PGM3 gene have… read more here.
Keywords: pgm3 gene; founder; founder mutation; mutation underlies ... See more keywords
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain
Sign Up to like & getrecommendations! Published in 2018 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2018.07.006
Abstract: MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andalucía). We studied two index patients and 24 family members from two apparently… read more here.
Keywords: myh7; founder; founder mutation; laing distal ... See more keywords
Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival.
Sign Up to like & getrecommendations! Published in 2017 at "Revista Espanola De Cardiologia"
DOI: 10.1016/j.rec.2017.03.034
Abstract: Abstract Introduction and objectives Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of… read more here.
Keywords: founder; mutation eif2ak4; impact; disease ... See more keywords
DIASTOLIC FUNCTION IN MYOSIN-BINDING PROTEIN C FOUNDER MUTATION CARRIERS WITH AND WITHOUT CLINICAL EVIDENCE OF HYPERTROPHIC CARDIOMYOPATHY
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the American College of Cardiology"
DOI: 10.1016/s0735-1097(19)31538-4
Abstract: The MYBPC3 (Myosin-binding protein C) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland, allowing unique opportunity to explore the relation between genotype and clinical phenotype. This study explores the burden… read more here.
Keywords: myosin binding; hypertrophic cardiomyopathy; binding protein; founder mutation ... See more keywords
An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1681008
Abstract: ABSTRACT Background: Mutations in CACNA1F have been mainly associated with X-linked incomplete congenital stationary night blindness (icCSNB). Variable phenotypic expression in females was reported in some families. We report here three non-related Ashkenazi Jewish families… read more here.
Keywords: phenotype; cacna1f; ashkenazi jewish; female carriers ... See more keywords
Lethal COG6-CDG in neonatal patient with arachnodactyly, joint contractures, and skin manifestations: Founder mutation in the Southeastern European population?
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric dermatology"
DOI: 10.1111/pde.14922
Abstract: Herein, we report a lethal case of the ultra-rare COG6-congenital disorder of glycosylation (CDG) presenting with skin manifestations (scaling and erosions) and joint contractures in a neonate of Albanian origin. The patient was homozygous for… read more here.
Keywords: patient; skin manifestations; joint contractures; southeastern european ... See more keywords
Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers
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DOI: 10.1136/openhrt-2019-001220
Abstract: Objective The myosin-binding protein C (MYBPC3) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland. This cross-sectional observational study explored the penetrance and phenotypic burden among carriers of this single, prevalent… read more here.
Keywords: myosin binding; age; founder mutation; binding protein ... See more keywords
Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-019-1095-4
Abstract: BackgroundChanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients.ResultsWe report… read more here.
Keywords: age; founder mutation; series; dorfman syndrome ... See more keywords
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
Sign Up to like & getrecommendations! Published in 2019 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000315
Abstract: Objective To characterize the clinical phenotype, genetic origin, and muscle pathology of patients with the FKRP c.1387A>G mutation. Methods Standardized clinical data were collected for all patients known to the authors with c.1387A>G mutations in… read more here.
Keywords: pathology; founder mutation; patients homozygous; fkrp 1387a ... See more keywords
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
Sign Up to like & getrecommendations! Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0264056
Abstract: Birt-Hogg-Dube syndrome (BHDS) (MIM: 135150) is a rare autosomal dominant disorder with variable penetrance, caused by pathogenic variants in the FLCN gene. Only a few hundreds of families have so far been described in the… read more here.
Keywords: founder mutation; birt hogg; population; swedish population ... See more keywords