Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2019.06.006
Abstract: PURPOSE Multiple lines of evidence have suggested a likely causative role in breast/ovarian cancer (BrCa/OvCa) predisposition for the BRCA1 p.(Val1833Met) variant, predominantly found among Greek patients. Our aim was to study the variant's prevalence and… read more here.
Keywords: brca1 val1833met; founder; val1833met variant; founder effect ... See more keywords
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0403-8
Abstract: Currently only 25–30% of patients with axonal forms of Charcot-Marie-Tooth disease (CMT) receive a genetic diagnosis. We aimed to identify the causative gene of CMT type 2 in 8 non-related French families with a distinct… read more here.
Keywords: founder effect; french families; charcot marie; type ... See more keywords
A Founder Effect Led Early SARS-CoV-2 Transmission in Spain
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DOI: 10.1128/jvi.01583-20
Abstract: Multiple SARS-CoV-2 introductions have been detected in Spain, and at least four resulted in the emergence of locally transmitted clusters that originated not later than mid-February, with further dissemination to many other countries around the… read more here.
Keywords: spain; founder effect; detected spain; sars cov ... See more keywords
Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration
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DOI: 10.3390/brainsci12050517
Abstract: PLA2G6-associated neurodegeneration (PLAN) is a rare autosomal recessive disorder caused by PLA2G6 mutations. This study aimed to investigate the clinical characteristics and mutation spectrum of PLAN and to investigate the founder effects in Chinese PLAN… read more here.
Keywords: founder; founder effect; analysis; chinese patients ... See more keywords
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder
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DOI: 10.3390/genes13040675
Abstract: For disorders with X-linked inheritance, variants may be transmitted through multiple generations of carrier females before an affected male is ascertained. Pathogenic RS1 variants exclusively cause X-linked retinoschisis (XLRS). While RS1 is constrained to variation,… read more here.
Keywords: recurrent pathogenic; founder effect; founder; rs1 ... See more keywords
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans
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DOI: 10.3390/ijms20174174
Abstract: PDZD7, a PDZ domain-containing scaffold protein, is critical for the organization of Usher syndrome type 2 (USH2) interactome. Recently, biallelic PDZD7 variants have been associated with autosomal-recessive, non-syndromic hearing loss (ARNSHL). Indeed, we identified novel,… read more here.
Keywords: founder effect; arg164trp; pdzd7; hearing ... See more keywords