Search results for "BAND"
showing 10 items of 2610 documents
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
2013
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated using autozygosity mapping and whole-exome sequencing. The proband presented with obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. The mutation was also found in two of the proband's siblings with retinal dystrophy and resulted in mislocalization of the truncated protein. In contrast to known forms of retinal dystrophy, including those caused by mutations in the tubby-like protein …
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.
2008
International audience; BACKGROUND: The diagnosis of Marfan syndrome (MFS) is usually initially based on clinical criteria according to the number of major and minor systems affected following international nosology. The number of FBN1 mutation carriers, at risk of aortic complications who would not be properly diagnosed based only on clinical grounds, is of growing importance owing to the increased availability of molecular screening. The aim of the study was to identify patients who should be considered for FBN1 mutation screening. METHODS: Our international series included 1009 probands with a known FBN1 mutation. Patients were classified as either fulfilling or not fulfilling "clinical"…
Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy
2020
An Italian family with familial hemiplegic migraine (FHM) with the absence of mutations in the known genes associated with this disorder, namely ATP1A2, ATP1A3, CACNA1A, and SCN1A, has recently been reported. Soon afterward, whole exome sequencing allowed the identification of the carrier status of a heterozygous ATP1A4 mutation c.1798 C >T, in four affected members of this family. Here we compare the clinical symptoms of the affected family members with those from the other FHM families linked to mutations in the known genes associated with this disorder. A further two-year follow-up, including clinical response to carbamazepine administered to the proband and the maternal grandmother due …
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
2021
ObjectiveTo assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.MethodsSixty-seven probands with various progressive neurological disorders (cerebellar ataxias, neuromuscular disorders, spastic paraplegias, movement disorders and individuals with complex phenotypes labelled ‘other’) were recruited over a 4-year period regardless of their age, gender, familial history and clinical framework. Individuals could have had prior genetic tests as long as it was not cES. cES was performed in a proband-only (60/67) or trio (7/67) st…
Personality patterns in subjects at risk for affective disorders.
1995
The main conclusions of this study on the familial links between personality patterns and affective disorders are: (1) The personality features with the greatest degree of symptomatic overlap with unipolar depression were more common among the first-degree relatives of probands with this diagnosis: thus dysthymic temperament and neuroticism are enhanced in this group of relatives compared to controls. Likewise personality features with a high degree of symptomatic overlap with bipolar affective disorder were more common among the first-degree relatives of probands with this diagnosis. Thus levels of dysthymic and cyclothymic temperament were elevated in this group of relatives compared to c…
The impact of study design and diagnostic approach in a large multi-centre ADHD study: Part 2: Dimensional measures of psychopathology and intelligen…
2011
Contains fulltext : 97437.pdf (Publisher’s version ) (Open Access) BACKGROUND: The International Multi-centre ADHD Genetics (IMAGE) project with 11 participating centres from 7 European countries and Israel has collected a large behavioural and genetic database for present and future research. Behavioural data were collected from 1068 probands with ADHD and 1446 unselected siblings. The aim was to describe and analyse questionnaire data and IQ measures from all probands and siblings. In particular, to investigate the influence of age, gender, family status (proband vs. sibling), informant, and centres on sample homogeneity in psychopathological measures. METHODS: Conners' Questionnaires, St…
Genotype–phenotype correlation in a new Fabry-disease-causing mutation
2019
Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical a…
PRENATAL IDENTIFICATION OF A HETEROZYGOUS STATUS IN TWO FETUSES AT RISK FOR GLUCOSE–GALACTOSE MALABSORPTION
1996
Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder which presents with severe osmotic diarrhoea shortly after birth. Two proband siblings with GGM were previously demonstrated to contain a missense mutation (D28N) in the Na + -dependent glucose/galactose cotransporter (SGLTI) that accounts for the defect in sugar absorption. Prenatal screening for GGM was performed in two subsequent pregnancies in this large consanguineous family. The first exon of the SGLTI gene was PCR-amplified from genomic DNA and screened for the presence of the D28N mutation by EcoRV restriction digestion. The proband's sibling was heterozygous and a cousin was not a carrier of the D28N mutation.…
Peran Sektor Pertanian Arti Luas dalam Perekonomian Papua (Pendekatan Model Input-Output)
2018
The aim of this study is to know contribution of agriculture sectors on Gross Domestic Product of Papua in 2002 based on input-output table analysis. The result of analyzing shows that contribution of agriculture sectors in broad meaning to Gross Domestic Regional Product of Papua about 20,11% . Based on backward linkage analysis, it describes that plantations subsector; animal husbandry subsector and fishery subsector have an increase number in backward linkage, on the other hand backward linkage of food crops goes down. Furthermore, forward linkage of agriculture sectors which have link with others sector is fall in 2002. In conclusion, contribution of agriculture setors on Gross Domestic…
Microtubules and the First Cell Cycle in Cultured Mesophyll Protoplasts of Nicotiana
1990
When a protoplast is excised and cultured in vitro, an organized pattern of cell divisions must be reestablished to permit organogenesis, including plant regeneration. However, in a number of species protoplasts have proved to be very recalcitrant with regard to cell division and/or plant regeneration. In an attempt to find means to overcome the regeneration problem in recalcitrant species we are investigating the processes leading to cell division and morphogenesis in mesophyll protoplasts of the model system Nicotiana. Of particular interest are the initiation of the cell cycle and the coordination of progress through the cycles as a prerequisite for subsequent morphogenesis. Mesophyll pr…