Search results for "Human genetics"

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

2019

IF 2.004 (2017); International audience; With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate. A review of the literature was performed, focusing on all PubMed articles repo…

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of…

2017

International audience; PurposeCongenital anomalies and intellectual disability (CA/ID) are a major diagnostic challenge in medical genetics—50% of patients still have no molecular diagnosis after a long and stressful diagnostic “odyssey.” Solo clinical whole-exome sequencing (WES) was applied in our genetics center to improve diagnosis in patients with CA/ID.MethodsThis retrospective study examined 416 consecutive tests performed over 3 years to demonstrate the effectiveness of periodically reanalyzing WES data. The raw data from each nonpositive test was reanalyzed at 12 months with the most recent pipeline and in the light of new data in the literature. The results of the reanalysis for …

Correction: The landscape of epilepsy-related GATOR1 variants

2019

International audience; The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected in both the PDF and HTML versions of the article.

Recherche des bases moléculaires des phénotypes extrêmes de cancer par séquençage d'exome

2019

Certains cancers peuvent être qualifiés de « phénotypes extrêmes ». Il s’agit soit de formes sporadiques particulièrement précoces, soit de formes familiales avec un excès de cancers dans une même branche parentale. La présence de plusieurs tumeurs primitives, de tumeurs bilatérales ou l'association de plusieurs cancers rares chez un même patient ou au sein d’une même famille, peut également entrer dans cette catégorie. Devant ces présentations, une prédisposition génétique est très fortement suspectée.L'analyse de panels de gènes connus pour être impliqués dans les formes mendéliennes de cancer est la pratique courante pour identifier la mutation responsable d'une prédisposition au cancer.…

Human immunodeficiency virus infection mimics autoimmune hepatitis--a case report.

1988

Investigations on the population genetics of the alpha-1-antitrypsin polymorphism.

1970

The results of Pi-typing on 2647 individuals from 9 populations are reported. Of the 17 phenotypes and 9 alleles described in literature, we found 12 phenotypes and 8 alleles. The population smaples differ characteristically in their allele frequencies. The allle PiM appears constantly in all populations tested with a frequency of more than 0.85. The alleles PiF (0.01–0.11), PiS (0.01–0.02) and PiZ (0.01–0.02) were also relatively frequent in all samples. All the other alleles remain below 0.01. A great increase in the number of Pi-variants was observed in the Central European area. The frequency of α1-at variants in various populations is discussed.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developme…

2019

BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise breakpoints of balanced chromosomal rearrangements at the molecular level in patients with intellectual disability and/or congenital anomalies.MethodsBreakpoints were characterised by a paired-end low depth whole genome sequencing (WGS) strategy and validated by Sanger sequencing. Expression study of disrupted and neighbouring genes was performed by RT-qPCR from blood or lymphoblastoid cell line RNA.ResultsAmong the 55 pat…

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease

2017

IF 5.340; International audience; The main identified function of BCL2 protein is to prevent cell death by apoptosis. Mice knock-out for Bcl2 demonstrate growth retardation, severe polycystic kidney disease (PKD), gray hair and lymphopenia, and die prematurely after birth. Here, we report a 40-year-old male referred to for abdominal and thoracic aortic dissection with associated aortic root aneurysm, PKD, lymphocytopenia with a history of T cell lymphoblastic lymphoma, white hair since the age of 20, and learning difficulties. PKD, which was also detected in the father and sister, was related to an inherited PKD1 mutation. The combination of PKD with gray hair and lymphocytopenia was also r…

Carbohydrate-deficient glycoprotein syndromes: The Italian experience

2000

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

2015

Rubinstein–Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies. The syndrome is caused by almost private point mutations in the CREBBP (~55 % of cases) and EP300 (~8 %) genes. The CREBBP mutational spectrum is variegated and characterized by point mutations (30–50 %) and deletions (~10 %). The latter are diverse in size and genomic position and remove either the whole CREBBP gene and its flanking regions or only an intragenic portion. Here, we report 14 novel CREBBP deletions ranging from single exons to the whole gene and flanking regions which were identified by applying complementary cytomolecu…