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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.[ncbi.nlm.nih.gov] 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[rgd.mcw.edu] One such gene is the ataxia telangiectasia mutated (ATM) gene, which is available on many genetic panels offered to individuals with suspected hereditary risk.[ncbi.nlm.nih.gov]

  • 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.[ncbi.nlm.nih.gov] The proteolipid protein 1 (PLP1) gene is the only pathogenic gene of PMD.[ncbi.nlm.nih.gov] Both methods identified a sample with PLP gene deletion.[ncbi.nlm.nih.gov]

    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[ncbi.nlm.nih.gov] At least 20 mutations in the OCRL gene have been found to cause Dent disease 2.[ghr.nlm.nih.gov] We have examined the OCRL1 gene in 12 independent patients with OCRL and have found 11 different mutations.[ncbi.nlm.nih.gov]

    Missing: tp53bp1
  • Tuberous Sclerosis

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

    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[ucsfhealth.org] These are the first variants described in the promoter of the FMR1 gene. Copyright 2000 Academic Press.[ncbi.nlm.nih.gov] Family history revealed that her father had two mentally retarded sisters well as a brother with mental retardation and a normal sister.[ncbi.nlm.nih.gov]

    Missing: tp53bp1
  • Pseudohypoparathyroidism

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

    Missing: tp53bp1
  • Niemann-Pick Disease

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

    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.[umassmed.edu] 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.[ncbi.nlm.nih.gov] We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene.[ncbi.nlm.nih.gov]

    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.[ncbi.nlm.nih.gov] Cloning and characterization of a eukaryotic pantothenate kinase gene (panK) from Aspergillus nidulans. J. Biol.[doi.org] Wan, Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration, Clinical Genetics, 87, 1, (93), (2015).[doi.org]

    Missing: tp53bp1
  • Familial Dysautonomia

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

    Missing: tp53bp1