The Italian XLMR bank: A clinical and molecular database

C. Pescucci, R. Caselli, F. Mari, C. Speciale, F. Ariani, M. Bruttini, K. Sampieri, M. A. Mencarelli, E. Scala, I. Longo, R. Artuso, Alessandra Renieri, I. Meloni, A. Amoroso, M. T. Bassi, A. Battaglia, M. F. Bedeschi, S. Bigoni, R. Borgatti, F. CarnevaleU. Caruso, P. Cavalli, P. Chiurazzi, E. D'Alessandro, G. D'Avanzo, M. De Marchi, M. Di Rocco, F. Faravelli, G. Ferrero, M. Fichera, R. Fischetto, C. Galasso, L. Garavelli, R. Guerrini, U. Hladnik, G. La Marca, M. Lerone, E. Marchina, L. Mazzanti, L. Memo, V. Micheli, F. Moro, A. Murgia, G. Neri, C. Pantaleoni, E. M. Pergola, M. Priolo, M. M. Rinaldi, R. Rinaldi, C. Romano, S. Russo, G. Scarano, A. Selicorni, S. Sestini, G. Stangoni, P. Strisciuglio, R. Tenconi, D. Toniolo, L. Turolla, A. Verri, E. Zammarchi, L. Zelante, O. Zuffardi

Research output: Contribution to journalArticlepeer-review

Abstract

Mental retardation (MR) is a nonprogressive condition characterized by a significant impairment of intellectual capabilities with deficit of cognitive and adaptive functioning and onset before 18 years. Mental retardation occurs in about 2 to 3% of the general population and it is estimated that 25 to 35% of the cases may be due to genetic causes. Among these "genetic" MR, 25 to 30% are probably due to mutations in a gene on the X chromosome (X-linked mental retardation, XLMR). Given the genetic heterogeneity of XLMR, the availability of a considerable number of patients with accurate phenotypic classification is a crucial factor for research. The X-linked Mental Retardation Italian Network, which has been active since 2003, has collected detailed clinical information and biological samples from a vast number of MR patients. Collected samples and clinical information are inserted within the XLMR bank, a comprehensive molecular and clinical web-based database available at the address http://xlmr.unisi.it. The database is organized in three distinct parts. Part I and II contain several electronic schedules to register information on the family, the phenotypic description, the photographs, and a 20 sec movie of the patient. Part III allows the registration of molecular analyses performed on each case; samples and clinical data are usable via password-restricted access. Clinical and molecular centers interested in joining the network may request a password by simply contacting the Medical Genetics of the University of Siena. The XLMR bank is an innovative biological database that allows the collection of molecular and clinical data, combines descriptive and iconographic resources, and represents a fundamental tool for researchers in the field of mental retardation.

Original languageEnglish
Pages (from-to)13-18
Number of pages6
JournalHuman Mutation
Volume28
Issue number1
DOIs
Publication statusPublished - Jan 2007

Keywords

  • Clinical database
  • Molecular database
  • X-linked mental retardation
  • XLMR
  • XLMR Italian Network

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'The Italian XLMR bank: A clinical and molecular database'. Together they form a unique fingerprint.

Cite this