CorneliadeLangesyndromeisapleiotropicdevelopmentalsyndromecharacterizedbygrowthandcognitiveimpairment,facialdysmorphicfeatures,limbanomalies,andothermalfor-mations.MutationsincorecohesingenesSMC1AandSMC3,andthecohesinregulatorygene,NIPBL,havebeenidentifiedinCorneliadeLangesyndromeprobands.PatientswithNIPBLmutationshavemoreseverephenotypeswhencomparedtothosewithmutationsinSMC1AorSMC3.Todate,26distinctSMC1AmutationshavebeenidentifiedinpatientswithCorneliadeLangesyndrome.Here,wedescribea3-year-oldgirlwithpsy-chomotorandcognitiveimpairment,mildfacialdysmorphicfeaturesbutnolimbanomaly,heterozygousforac.1487G>AmutationinSMC1Awhichpredictsp.Arg496His.Weshowthatthismutationleadstoanimpairmentofthecellularresponsetogenotoxictreatments.2011WileyPeriodicals,

SMC1A Codon 496 Mutations Affect the Cellular Response to Genotoxic Treatments / Linda Mannini; Stefania Menga; Alessandra Tonelli; Silvia Zanotti; Maria Teresa Bassi; Cinzia Magnani; Antonio Musio. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 158A(2011), pp. 224-228. [10.1002/ajmg.a.34384]

SMC1A Codon 496 Mutations Affect the Cellular Response to Genotoxic Treatments

MAGNANI, Cinzia;
2011

Abstract

CorneliadeLangesyndromeisapleiotropicdevelopmentalsyndromecharacterizedbygrowthandcognitiveimpairment,facialdysmorphicfeatures,limbanomalies,andothermalfor-mations.MutationsincorecohesingenesSMC1AandSMC3,andthecohesinregulatorygene,NIPBL,havebeenidentifiedinCorneliadeLangesyndromeprobands.PatientswithNIPBLmutationshavemoreseverephenotypeswhencomparedtothosewithmutationsinSMC1AorSMC3.Todate,26distinctSMC1AmutationshavebeenidentifiedinpatientswithCorneliadeLangesyndrome.Here,wedescribea3-year-oldgirlwithpsy-chomotorandcognitiveimpairment,mildfacialdysmorphicfeaturesbutnolimbanomaly,heterozygousforac.1487G>AmutationinSMC1Awhichpredictsp.Arg496His.Weshowthatthismutationleadstoanimpairmentofthecellularresponsetogenotoxictreatments.2011WileyPeriodicals,
SMC1A Codon 496 Mutations Affect the Cellular Response to Genotoxic Treatments / Linda Mannini; Stefania Menga; Alessandra Tonelli; Silvia Zanotti; Maria Teresa Bassi; Cinzia Magnani; Antonio Musio. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 158A(2011), pp. 224-228. [10.1002/ajmg.a.34384]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11381/2537665
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