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French Family (french + family)

Distribution by Scientific Domains

Medical Sciences	75%

Selected Abstracts

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica,,

HUMAN MUTATION, Issue 4 2003
Sébastien Küry
Abstract Acrodermatitis enteropathica is rare autosomal recessive disorder characterized by a severe nutritional zinc deficiency. We and others have recently identified the human gene encoding an intestinal zinc transporter of the ZIP family, SLC39A4, as the mutated gene in acrodermatitis enteropathica (AE). A first mutation screening in 8 AE families (15 patients out of 36 individuals) revealed the presence of six different mutations described elsewhere. Based on these results, we have evaluated the involvement of SLC39A4 in 14 patients of 12 additional AE pedigees coming either from France, Tunisia, Austria or Lithuania. A total of 7 SLC39A4 mutations were identified (1 deletion, 2 nonsense, 2 missense, and 2 modifications of splice site), of which 4 are novel: a homozygous nonsense mutation in 3 consanguineous Tunisian families [c.143T>G (p.Leu48X)], a heterozygous nonsense mutation (c.1203G>A (p.Trp401X)) in a compound heterozygote from Austria also exhibiting an already known missense mutation, and distinct homozygous mutations in families from France or Tunisia [c.475-2A>G and c.184T>C (p.Cys62Arg)]. Furthermore, two other potential mutations [c.850G>A (p.Glu284Lys) and c.193-113T>C] were also observed at homozygous state in a French family formerly described. This study brings to 21 the number of reported SLC39A4 mutations in AE families. © 2003 Wiley-Liss, Inc. [source]

The MMP2 rs243865-T allele is not a major genetic factor for rheumatoid arthritis in the French Caucasian population

INTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 2 2008
L. Jacq
Summary The MMP2 rs243865-T allele was recently suggested to be associated with rheumatoid arthritis (RA) in a case,control study. MMP2 is a positional RA candidate gene. Our aim was to test rs243865 in a French family based study. No significant result was shown. The MMP2 rs243865-T allele is not a major rheumatoid arthritis genetic factor in this population. [source]

Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremor

MOVEMENT DISORDERS, Issue 5 2006
Frédéric Bourdain MD
Abstract Familial cortical myoclonic tremor (FCMT) is a rare disorder often leading to a wrong clinical diagnosis of essential tremor. Electrophysiological data are usually considered to allow a correct diagnosis. We describe a FCMT French family with previously unreported clinical features such as sensitivity to glucose deprivation, vibration, repetitive visual patterns, and intense visual or auditory stimulation and contrasts. Electrophysiological studies of the propositus confirm the cortical reflex myoclonus elicited by photic stimulation and the absence of epileptic electroencephalographic discharges. We emphasize that a precise clinical analysis can lead to a correct diagnosis before electrophysiological confirmation. This is also the first-ever report of efficacy of levetiracetam in FCMT. © 2005 Movement Disorder Society [source]

A narcolepsy susceptibility locus maps to a 5Mb region of chromosome 21q

ANNALS OF NEUROLOGY, Issue 3 2004
Yves Dauvilliers MD
The genetic basis of human narcolepsy remains poorly understood. Multiplex families with full-blown narcolepsy-cataplexy are rare, whereas families with both narcolepsy-cataplexy and excessive daytime sleepiness without cataplexy are more common. We performed a genomewide linkage analysis in a large French family with four members affected with narcolepsy-cataplexy and 10 others with isolated recurrent naps or lapses into sleep. Only three regions showed logarithm of odds (LOD) scores greater than 1 in two-point linkage analysis (D6S1960, D11S2359, and D21S228). Genotyping additional markers provided support for linkage to 9 markers on chromosome 21 (maximum two-point LOD score, 3.36 at D21S1245). The multipoint linkage analysis using SimWalk2 provided further evidence for linkage to the same region (maximum parametric LOD score, 4.00 at 21GT26K). A single haplotype was shared by all affected individuals and informative crossovers indicated that the elusive gene that confers susceptibility to narcolepsy is likely to be located between markers D21S267 and ABCG1, in a 5.15Mb region of 21q. Ann Neurol 2004 [source]