RESUMEN
No abstract available.
Asunto(s)
Femenino , Humanos , Recién Nacido , Anomalías Múltiples/genética , Cromosomas Humanos Par 14 , Pie Equinovaro/genética , Duplicación de Gen , Cardiopatías Congénitas/genética , Cariotipo , Análisis de Secuencia por Matrices de OligonucleótidosRESUMEN
Recently it was shown that single nucleotide polymorphisms (SNPs) can explain individual variation because of the small changes of the gene expression level and that the 50% decreased expression of an allele might even lead to predisposition to cancer. In this study, we found that a decreased expression of an allele might cause predisposition to genetic disease. Dopa responsive dystonia (DRD) is a dominant disease caused by mutations in GCH1 gene. The sequence analysis of the GCH1 in a patient with typical DRD symptoms revealed two novel missense mutations instead of a single dominant mutation. Family members with either of the mutations did not have any symptoms of DRD. The expression level of a R198W mutant allele decreased to about 50%, suggesting that modestly decreased expression caused by an SNP should lead to predisposition of a genetic disease in susceptible individuals.
Asunto(s)
Niño , Humanos , Masculino , Pie Equinovaro/genética , Dopamina/deficiencia , Trastornos Distónicos/tratamiento farmacológico , GTP Ciclohidrolasa/genética , Genes Recesivos , Predisposición Genética a la Enfermedad , Levodopa/administración & dosificación , Mutación Missense , Linaje , Polimorfismo GenéticoRESUMEN
We report on 3 Arab sisters, born to phenotypically normal, consanguineous parents with distal arthrogryposis cleft palate, and short stature. We propose that this constellation represents a distinct form of the Gordon syndrome with autosomal recessive mode of inheritance
Asunto(s)
Fisura del Paladar/genética , Pie Equinovaro/genética , Síndrome , ÁrabesRESUMEN
This study was carried out on 73 patients with congenital talipes equinovarus attending the Orthopaedic and Paediatric Departments, Mansoura University Hospital. Careful history, clinical and radiological examination and chromosomal study was carried out for every patient in order to detect the aetiology and the genetic pattern of club foot. We concluded that idiopathic club foot is primarily caused by multifactorial inheritance system modified by intrauterine environmental factors and is affected by the genetic pattern