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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; Magnani, Cinzia; 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;
2011-01-01

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,
2011
SMC1A Codon 496 Mutations Affect the Cellular Response to Genotoxic Treatments / Linda, Mannini; Stefania, Menga; Alessandra, Tonelli; Silvia, Zanotti; Maria Teresa, Bassi; Magnani, Cinzia; 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: https://hdl.handle.net/11381/2537665
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