Search results for " Consanguinity"

showing 3 items of 3 documents

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda

2004

Repeated occurrence of a hitherto unrecognized form of spondyloepiphyseal dysplasia tarda (SED tarda) has been studied in two independent families. Because parental consanguinity was also present in one family, autosomal recessive inheritance is proposed. The onset was in late childhood. The slowly evolving disorder shared several features of the already known types of SED tarda. The radiographic abnormalities were limited to the spine and proximal femora. The patients' hands were normal. The entity described is set apart not only from the X-linked and autosomal-dominant forms of SED tarda but also from the already delineated autosomal recessive types by significant clinical and radiographi…

Malemusculoskeletal diseasesSpondyloepiphyseal dysplasiaSpondyloepiphyseal dysplasia tardamedicine.medical_specialtyAdolescentGenes RecessiveBiologyOsteochondrodysplasiasGenetic linkageMolecular geneticsGenotypemedicineHumansChildGenetics (clinical)Family HealthGeneticsSpondyloepimetaphyseal dysplasiaFemur Headmedicine.diseaseOsteochondrodysplasiaSpineRadiographyParental consanguinityFemaleEpiphysesAmerican Journal of Medical Genetics
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Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the s…

2021

Abstract Introduction Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two genetically distinct forms of disease, renal and systemic, have been described, showing a wide clinical expressivity. Mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC) are responsible for generalized PHA1. Patients’ presentation We hereby report on two Italian patients with generalized PHA1, coming from the same small town in the center of S…

MaleHyperkalemiaPseudohypoaldosteronismENaCCase ReportGene mutationBioinformaticsPediatricsRJ1-570chemistry.chemical_compoundConsanguinityYoung AdultNext generation sequencingmedicineHumansFamily historyEpithelial Sodium ChannelsSicilyENaC Next generation sequencing SCNN1A gene Splicing mutation Consanguinity Epithelial Sodium Channels Female Humans Infant Newborn Male Mutation Pseudohypoaldosteronism Sicily Young AdultAldosteronebusiness.industryInfant NewbornPseudohypoaldosteronismmedicine.diseasechemistrySCNN1A geneMutation (genetic algorithm)MutationFemalemedicine.symptombusinessHyponatremiaSplicing mutationAuntItalian Journal of Pediatrics
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Spondylo-costal dysostosis in two siblings

1992

Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features. Its genetic heterogeneity is pointed out even considering the occurrence of cases with autosomal dominant as well as recessive inheritance.

MalePathologymedicine.medical_specialtyRibsGenes RecessiveConsanguinityRecessive inheritancemedicineHumansAbnormalities MultipleChildGeneticsAutosomal recessive inheritanceGenetic heterogeneitybusiness.industryRibDysostosisSyndromemedicine.diseaseSpineRadiographyParental consanguinityPediatrics Perinatology and Child HealthTraitFemaleSkeletal abnormalitiesbusinessHuman
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