Search results for "Family history"
showing 10 items of 179 documents
Mutational analysis ofBRCA1andBRCA2in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations
2003
In Spain, the contribution of BRCA mutations to the population incidence of early-onset breast cancer was unknown. We carried out a mutational analysis of the BRCA1 and BRCA2 genes in 124 Spanish women diagnosed with breast cancer before the age 41 and who were not selected for a family history of this disease. The genetic study was performed by PCR-SSCP analysis and DNA sequencing. We identified 6 pathogenic BRCA mutations in 7 unrelated probands (5.6%; 95% CI=2.3% to 11.3%): 1 BRCA1 (c.2080delA) and 5 BRCA2 (p.Y3006X, p.Q1994X, c.9204_9217del14, c.9254_9258del5 and c.295+2T>C). Three out of 6 mutations were novel (BRCA2 p.Y3006X, c.9204_9217del14, and c.295+2T>C), and two further mutation…
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
2010
The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). However, roughly 60% of patients are negative for SPAST mutations, despite their family history being compatible with AD inheritance. A mutation in the gene for an acetyl-CoA transporter (SLC33A1) has recently been reported in one Chinese family to cause ADHSP-type SPG42. In this study, we screened 220 independent SPAST mutation-negative ADHSP samples for mutations in the SLC33A1 gene by high-resolution melting curve analysis. Conspicuous samples were validated by direct sequencing. Moreover, copy number variations affecting SLC33A1 were screened by …
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
2018
AbstractPurposeTo assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations.MethodsWe analyzed quantitative clinical information, exome-sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated mutations.ResultsThe number of rare secondary mutations in functionally intolerant genes (second-hits) correlated with the expressivity of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in probands with autism carrying gene-disruptive mutations (n=184, p=0.03) compared to …
Significant association of MTHFD1 1958GA single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population.
2014
Objectives: Nonsyndromic cleft lip and palate (NSCLP) is genetically distinct from those with syndromic clefts, and accounts for ~70% of cases with Oral clefts. Folate, or vitamin B9, is an essential nutrient in our diet. Allelic variants in genes involved in the folate pathway might be expected to have an impact on risk of oral clefts. Given the key role of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) in folate metabolism, it would be of significant interest to assess its role in NSCLP etiology. Study Design: The present study aims at examining the association between MTHFD1 1958G>A polymorphism and NSCLP risk by conducting a case-control study in south Indian population. Our sample …
The surprising influence of family history to type 2 diabetes on anaerobic performance of young male élite athletes
2014
Aims/Hypothesis It is known that family history to type 2 diabetes induces anthropometric changes in various populations. Regular physical activity can induce adaptations in these subjects regularizing body composition and anthropometric parameters. The aim of this study is therefore to understand if family history to type 2 diabetes affects anaerobic performance in young male élite athletes. Methods Forty six young male élite athletes were tested. Thirty three without family history to type 2 diabetes (FH-) and thirteen with family history to type 2 diabetes (FH+). Anthropometric parameters, body composition, physiological parameters and athletic performance were assessed. Results Weight (…
The relevant role of family history in predicting type 2 diabetes occurrence.
2019
On June 6, 2019, the Polish Archives of Internal Medicine published an interesting article by Szczerbiński et al,1 entitled “Efficacy of family history, genetic risk score, and physical activity in assessing the prevalence of type 2 diabetes.” This editorial is a commentary on this paper, intending to highlight, one more time, the importance of a positive family history (FH+) of type 2 diabetes (T2D) for estimating diabetes occurrence in the adult population as well as the importance of physical activity (PA) for maintaining optimal body composition and a low incidence rate of chronic disease.2 Since 2011, my research group has provided periodical pieces of evidence (2011, 2013, and 2014) a…
355 Night shift work and prostate cancer risk in a population-based case-control study in Spain
2013
Objectives Recent epidemiologic and animal data indicate that night work may increase the risk of cancer and specifically breast cancer. There is limited evidence on other hormone related cancers. We evaluated prostate cancer risk and night shift work in a population based case-control study in Spain, the MCC-Spain. Methods Incident prostate cancer cases (n = 1117) and randomly selected population controls (n = 1165) were enrolled in 7 regions of Spain. Lifetime occupational history including details on shift work, and information on lifestyle factors were assessed by face-to-face interviews. We estimated the risk of different shift profiles using unconditional logistic regression models ad…
Induced abortion and risk of small-for-gestational-age birth.
2007
Objective: To investigate the possibility of an association between previous induced abortion and subsequent birth of a small-for-gestational-age (SGA) infant. Design: Case-control study. Setting: General and university hospitals. Methods: Cases were 555 women who delivered SGA babies. Controls were 1966 women who gave birth at term (>37 weeks of gestation) to healthy infants of normal weight on randomly selected days at the hospital where cases had been identified. All women in the case and control categories were interviewed on the obstetric wards by one of a team of six interviewers. During the interviews, information was obtained regarding general socio-demographic factors, personal cha…
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
2021
Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
2013
International audience; BACKGROUND:The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.METHODS:Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics.RESULTS:97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, wit…