0000000000249262

AUTHOR

Andreas Dufke

showing 2 related works from this author

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

2013

Marinesco-Sjogren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjogren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjogren syndrome triad (ataxia, cataracts, m…

MalePathologymedicine.medical_specialtyAtaxiaultrastructure [Muscle Skeletal]SIL1 protein humanAdolescentMarinesco–Sjögren syndromeDNA Mutational Analysisgenetics [Mutation]Bioinformaticsmedicine.disease_causepathology [Muscle Skeletal]physiopathology [Spinocerebellar Degenerations]Cataractspathology [Brain]Intellectual disabilitymedicineGuanine Nucleotide Exchange FactorsHumansddc:610MyopathyMuscle SkeletalCells CulturedRetrospective StudiesSpinocerebellar DegenerationsFamily HealthMutationB-LymphocytesCerebellar ataxiabusiness.industryBrainmedicine.diseasegenetics [Guanine Nucleotide Exchange Factors]Magnetic Resonance Imaging10124 Institute of Molecular Life Sciencesgenetics [Spinocerebellar Degenerations]2728 Neurology (clinical)pathology [Spinocerebellar Degenerations]Mutationultrastructure [Brain]570 Life sciences; biologyAllelic heterogeneityFemaleNeurology (clinical)Neurosciences & Neurologymedicine.symptombusinessBrain : a journal of neurology
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Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

2010

IL1RAPL1 (interleukin-1 receptor accessory protein-like 1) located at Xp21.3-22.1 has repeatedly been shown to be deleted in patients with a contiguous gene syndrome also affecting neighboring genes, in particular DMD (dystrophin), DAX-1 (NR0B1, nuclear receptor subfamily 0, group B, member 1), and GK (glycerol kinase). In contrast, intragenic deletions of IL1RAPL1 or other mutations or cytogenetic aberrations affecting IL1RAPL1 have only rarely been identified. Up to date, they have mostly been associated with nonspecific mental retardation (MRX). We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them bein…

MaleSubfamilyMicroarrayBiologyPolymerase Chain ReactionContiguous gene syndromeExonIntellectual DisabilityGeneticsmedicineHumansAbnormalities MultipleGeneIn Situ Hybridization FluorescenceGenetics (clinical)X chromosomeSequence DeletionGeneticsKaryotypeMicroarray Analysismedicine.diseasePhenotypePedigreePhenotypeKaryotypingInterleukin-1 Receptor Accessory ProteinAmerican Journal of Medical Genetics Part A
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