Search results for "Heterozygous mutation"

showing 4 items of 4 documents

A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review

2021

Krabbe disease (KD) is a rare autosomal recessive lipid storage leukodystrophy. It is caused by deficient enzyme activity resulting from mutations of the β-galactocerebrosidase (GALC) gene. KD is distinguished into subtypes based on the age of onset; these are early infantile, late infantile, juvenile, and adult-onset. We report a case of a 47-year-old Caucasian man with a 2-year history of muscle atrophy and weakness in both hands associated with pyramidal signs and mild spasticity in the lower limbs. An extensive work-up led this motor neuron disease-like disorder to be diagnosed as adult-onset KD. The patient was found to be compound heterozygous for two GALC mutations (p.G286D and p.Y49…

MaleCellular and Molecular NeuroscienceHeterozygoteMutationGeneticsHumansSettore MED/26 - NeurologiaMiddle AgedGenetics (clinical)Compound heterozygous mutation GALC Adult-onset Krabbe disease Peripheral neuropathyGalactosylceramidaseLeukodystrophy Globoid Cell
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Trouble always comes in threes: three mutations for three auto inflammatory genes in a child and in his father

2014

The coexistence of mutations in more than one gene, linked to Autoinflammatory Diesases, can confuse and make difficult the diagnosis and management of these patients, especially in childhood, when the clinical history is still brief.

Pediatricsmedicine.medical_specialtyauto inflammatory geneBioinformaticsSettore MED/38 - Pediatria Generale E SpecialisticaRheumatologyClinical historyInternal medicinemedicineImmunology and AllergyPediatrics Perinatology and Child HealthGeneInflammatory genesHeterozygous mutationgene mutationsbusiness.industryMultiple sclerosisfood and beveragesmedicine.diseaseRheumatologyPharyngitisCanakinumabPediatrics Perinatology and Child HealthPoster Presentationmedicine.symptombusinessmedicine.drug
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A heterozygous mutation in the RAG2 gene with cutaneous and systemic manifestations partially resembling Omenn syndrome

2021

GeneticsRAG2medicineDermatologyBiologymedicine.diseaseGeneOmenn syndromeHeterozygous mutationJDDG: Journal der Deutschen Dermatologischen Gesellschaft
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Pulmonary microvascular architecture in hereditary haemorrhagic telangiectasia

2017

A 24-year-old Caucasian man was admitted with a known hereditary haemorrhagic telangiectasia (HHT) and heterozygous mutation of factor V Leiden following episodes of cerebral infarctions in occipital lobes, cerebellum and brainstem. In his case history, the patient underwent several interventional embolisation of arteriovenous (AV) malformations in the middle and lower lobes (figure 1). However, those were not completely successful as the malformations were diffuse. We performed video-assisted thoracoscopic surgery with a resection of the middle lobe and a wedge resection of segment 10. Figure 1 CT scans depict the pulmonary arteriovenous malformations after re-embolisation in the middle lo…

Pulmonary and Respiratory MedicineMalecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyMucocutaneous zoneMedizinArticleResection03 medical and health sciencesYoung Adult0302 clinical medicineMicroscopy Electron Transmissionhemic and lymphatic diseasesotorhinolaryngologic diseasesmedicineFactor V LeidenHumans030223 otorhinolaryngologyLungHeterozygous mutationHereditary haemorrhagic telangiectasiabusiness.industryMiddle LobeMicrovascular architecturemedicine.diseaseSurgery030228 respiratory systemMicrovesselsTelangiectasia Hereditary HemorrhagicRadiologybusinessTomography X-Ray ComputedWedge resection (lung)
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