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PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan
Autosomal Dominant polycystic kidney disease (ADPKD) is the most common inherited adult kidney disease. Although ADPKD is primarily caused by PKD1 ...
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Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China
BackgroundAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by predominant impairment of upper and lower...
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Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population
PurposeMajor histocompatibility complex class II (MHC-II) deficiency is a rare inborn error of immunity (IEI). Impaired antigen presentation to...
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Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients
Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous ciliopathy. Dysfunction of motile respiratory and nodal cilia results...
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Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene
Cerebral cavernous malformations (CCM) are vascular malformations consisting of collections of enlarged capillaries occurring in the brain or spinal...
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An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
Background and aimsMutations in neurofilament genes have been linked to several neuromuscular disorders. The neurofilament heavy ( NEFH ) gene was...
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Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy
BackgroundColorectal neoplasia is one of the most common tumors affecting Western populations.
MethodsIn this study we used a custom amplicon...
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Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients
BackgroundCongenital insensitivity to pain (CIP) is a rare autosomal recessive disorder characterized primarily by an inability to perceive physical...
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Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder affecting ciliary structure and function. PCD exhibiting dynein regulatory...
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Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?
Mutations in the BRCA1 and BRCA2 genes increase the risk for various cancers including breast, ovarian, prostate, pancreas and melanoma. Identifying BRCA1/2...
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Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort
Some 50% of Finnish Lynch Syndrome (LS) cases are caused by a founder variant in MLH1 , in which the entire exon 16 has been lost due to an...
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Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations
The spectrum of BRCA1/2 mutations demonstrates significant interethnic variations. We analyzed for the first time the entire BRCA1/2 coding region in...
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BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel
A founder variant is a genetic alteration, that is inherited from a common ancestor together with a surrounding chromosomal segment, and is observed...
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Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event
Mild/juvenile Canavan disease (M/JCD) is less frequently reported in the literature and little is known about its pathogenetic mechanisms. We report...
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Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population
Pathogenic variants in LRBA , encoding the LPS Responsive Beige-Like Anchor (LRBA) protein, are responsible for recessive, early-onset...
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A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients
Twelve patients from seven unrelated South Indian families with a limb-girdle muscular dystrophy-congenital myasthenic syndrome (LGMD/CMS) phenotype...
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Estrogen receptor-positive breast cancer and adverse outcome in BRCA2 mutation carriers and young non-carrier patients
Estrogen receptor-positive (ER+) breast cancer generally confers a more favorable prognosis than ER-negative cancer, however, a different picture is...
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Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease
It is unclear how rare RNF213 variants, other than the p.R4810K founder variant, affect the clinical phenotype or the function of RNF213 in moyamoya...
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Increased prevalence of the founder BRCA1 c.5309G>T and recurrent BRCA2 c.1310_1313delAAGA mutations in breast cancer families from Northerstern region of Morocco: evidence of geographical specificity and high relevance for genetic counseling
BackgroundInherited mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 ( BRCA1/2 ) confer high risks of breast and ovarian cancer....
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A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
BackgroundThe Colombian population, as well as those in other Latin American regions, arose from a recent tri-continental admixture among Native...
