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10,064 Possible Causes for Family History of Mental Retardation, gene, tp53bp1

  • Ataxia Telangiectasia

    The heterogeneity observed in the meta-analysis of individuals with radiation exposure might be due to gene-ethnicity or gene-gene interactions.[] 81,679,756 RGD:8661242 G Rnf40 ring finger protein 40 1 199,037,472 199,052,823 RGD:8661225 G Rnf8 ring finger protein 8 20 8,285,380 8,309,858 RGD:8661232 RGD:8661237 G Tp53bp1[] One such gene is the ataxia telangiectasia mutated (ATM) gene, which is available on many genetic panels offered to individuals with suspected hereditary risk.[]

  • Pelizaeus-Merzbacher Disease

    The molecular analysis of the PLP1 gene involved dosage analysis and direct sequencing of all exons and promotor region of the gene.[] The proteolipid protein 1 (PLP1) gene is the only pathogenic gene of PMD.[] Both methods identified a sample with PLP gene deletion.[]

    Missing: tp53bp1
  • Oculocerebrorenal Syndrome

    A directed interview, focusing on a maternal family history of male relatives with unexplained mental retardation, early institutionalization, or congenital rubella, is appropriate[] At least 20 mutations in the OCRL gene have been found to cause Dent disease 2.[] We have examined the OCRL1 gene in 12 independent patients with OCRL and have found 11 different mutations.[]

    Missing: tp53bp1
  • Tuberous Sclerosis

    Identification and characterisation of the tuberous sclerosis gene on chromosome 16.[] The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes.[] These were mapped to a 120 kb region that was cloned in cosmids and from which four genes were isolated.[]

    Missing: tp53bp1
  • Fragile X Syndrome

    You are at greater risk if you have: A family history of fragile X syndrome A family history of mental retardation, developmental delay or autism of unknown cause Infertility[] These are the first variants described in the promoter of the FMR1 gene. Copyright 2000 Academic Press.[] Family history revealed that her father had two mentally retarded sisters well as a brother with mental retardation and a normal sister.[]

    Missing: tp53bp1
  • Pseudohypoparathyroidism

    CONCLUSION: This report demonstrates the first evidence for a pathogenic mutation in exon 3 of the GNAS gene.[] It is caused by heterozygous mutations in GNAS gene.[] RESULTS: Gsalpha activity was reduced (62%) and molecular analysis revealed a new heterozygous GNAS gene mutation (D196N).[]

    Missing: tp53bp1
  • Niemann-Pick Disease

    Currently, 100 missense mutations in SMPD1 are listed in the Human Gene Mutation Database.[] No mutation of the SMPD1 gene was detected in the cultured amniocytes from the mothers.[] […] sequencing of the SMPD1 gene.[]

    Missing: tp53bp1
  • Tay-Sachs Disease

    Sena-Esteves leads the Tay-Sachs Gene Therapy Consortium with the focus to develop an AAV gene therapy and conduct the first-in-human clinical trial.[] The disorder results from mutations in the gene encoding the alpha-subunit of beta-hexosaminidase A, a lysosomal enzyme composed of alpha and beta polypeptides.[] We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene.[]

    Missing: tp53bp1
  • Hallervorden-Spatz Syndrome

    Here we show that HSS is caused by a defect in a novel pantothenate kinase gene and propose a mechanism for oxidative stress in the pathophysiology of the disease.[] Cloning and characterization of a eukaryotic pantothenate kinase gene (panK) from Aspergillus nidulans. J. Biol.[] Wan, Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration, Clinical Genetics, 87, 1, (93), (2015).[]

    Missing: tp53bp1
  • Familial Dysautonomia

    Researchers recently discovered the gene that causes this disease.[] These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD.[] This disease is now known to be caused by mutation in the AAAS gene located on chromosome 12q13.[]

    Missing: tp53bp1