All are false regarding Ataxia Telangiectasia EXCEPT:
(C) Gene repair defectHUMAN DISEASE & DNA REPAIR DEFECTDiseaseCancer susceptibilitySymptomsAtaxia telangiectasiaLymphomasTelangiectases in skin & eyes, immune dysfunctionBloom syndromeCarcinomas, leukaemias, LymphomasFacial telangiectases, photosensitivityFanconi anemiaLeukaemiasPancytopeniaXeroderma pigmentosumSkin carcinomas, melanomasSkin and eye photosensitivity, keratoses[?]Diseases associated with defective DNA repair systemAtaxia telangiectasiaBloom syndromeCockayne's syndromeProgeria (Hutchinson-Gilford Progeria syndrome)Rothmund-Thomson syndromeTrichothiodystrophyWerner syndromeXeroderma pigmentosumHereditary non-polyposis colon cancer.Human Diseases of DNA Damage RepairDefective Non-homologous End Joining Repair (NHEJ)Severe combined immunodeficiency diseaseRadiation sensitive severe combined immunodeficiency disease (RS-SCID)Defective Homologous Repair (HR)AT-like disorder (AT LD)Nijmegen breakage syndrome (NBS)Bloom syndrome (BS)Werner syndrome (WS)Rothmund-Thomson syndrome (RT S)Breast cancer susceptibility 1 & 2 (BRCA1, BRCA2)Defective DNA Nucleotide Excision Repair (NER)Xeroderma pigmentosumCockayne syndrome (CS)Trichothiodystrophy (TT D)Defective DNA Base Excision Repair (BER)MUTYH-associated polyposis (MAP)Defective DNA Mismatch Repair (MMR)Hereditary Non-polyposis Colorectal Cancer (HNPCC)ATAXIA-TELANGIECTASIAClinical Symptoms (ATM+)Cerebellar Ataxia (Neuromotor Dysfunction)Dilation of blood vesselsPremature agingImmunodeficiencyGonadal AtrophyCellular Phenotypes (ATM+)Genomic instabilityPoor cell growthDefective cell-cycle checkpointsRadio-sensitivityCancer predispositionlymphoma,leukemia (ATM+)Breast (ATM+)Inactivation of the ATM gene leads to ataxia-telangiectasia (A-T)Ataxia refers to poor coordination & Telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.A child who has inherited A-T will display nervous system abnormalities by age 2, and will then progressively lose muscle control.
Autosomal dominant
Prone for Development of Squamous Cell Carcinoma of Skin
Gene repair defect
Most common seen in adults
Miscellaneous (Bio-Chemistry)