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Italian X-linked Mental Retardation Project

Aims: To establish the frequency in the Italian population of mental retardation (MR) due to mutation in the known MRX genes. To assess new methods (i.e. enzymatic and/or biochemical) that overcome the time-consuming and less sensitive mutation analysis.

Patients: Both sporadic and familial MR male cases. Both nonspecific and syndromic cases (unknown syndromes). Already tested and negative for FRAXA, chromosome rearrangements and subtelomeric rearrangements cases.

Organization: The network includes
27 clinical centers
(Tab 1) and
9
laboratories (Tab. 2) spread all-over Italy.

In the following web site general information is accessible for public.

Specific information is accessible only for participants and it includes
:

          1) detailed clinical data
          2) location and preservation of biological samples (DNA, lymphoblastoid cell line, plasma, urine etc.)
          3) laboratory results.

Methodology: Genes analyzed are: RSK2, ARX, IL1RAPL, TM4SF2, XNP, OPHN1, FACL4, PAK3, AGTR2, ARHGEF6, FMR2, SLC6A8, MECP2, GDI1 and the two genes recently involved in autism (NLGN3 and NLGN4).
Whenever possible screening is performed by enzymatic assay (FACL4, RSK2 and PAK3) or metabolite dosage like creatine (SLC6A8).

Remaining genes are analyzed by standard mutation analysis. When mother’s biological sample is available X-chromosome inactivation is tested.
A skewed X-inactivation strengthens the hypothesis of mutation in specific genes (FACL4, ARHGEF6, XNP or GDI1).

When two affected individuals are available, locus exclusion/compatibility of specific MRX loci is determined. In larger families classical linkage analysis is performed.

Clinical Center Reference person
Assisi G. Strangoni
Avellino G. D’Avanzo
Bari F. Carnevale
Benevento G. Scarano
Bologna, S. Orsola L. Mazzanti
Bosisio Parini R. Borgatti
Brescia E. Marchina
Catanzaro, O. Pugliese P. Strisciuglio
Cremona P. Cavalli
Ferrara S. Bigoni
Firenze, Mayer E. Zammarchi
Genova Galliera F. Faravelli
Genova Gaslini M. Di Rocco
Genova Gaslini M. Lerone
L'Aquila E. D'Alessandro
Milano Pediatria A. Selicorni
Milano Besta C. Pantaleoni
Milano, Mangiagalli F. Badeschi
Napoli Cardarelli MM. Rinaldi
Padova R. Tenconi
Pavia A. Verri
Pisa, Stella Maris A. Battaglia
Pisa, Stella Maris R. Guerrini
Reggio Calabria M. Priolo
Reggio Emilia L. Garavelli
Roma Cattolica G. Neri
Roma ASL RM E M. Pergola
Roma Tor Vergata C. Galasso
San Giovanni Rotondo L. Zelante
Siena A. Renieri
Torino, Regina Margherita G. Ferrero
Belluno, USSL 1 L. Memo
Treviso, USSL 9 L. Turolla
Trieste U. Hladnik
Troina, OASI C. Romano

See Details...
Tab. 2 - Laboratories
Laboratory Reference person
Firenze, Mayer G. La Marca
Genova, Gaslini U. Caruso
Lecco, Bosisio Parini MT. Bassi
Milano, Auxologico S. Russo
Milano, San Raffaele D. Toniolo
Padova Murgia
Pavia O. Zuffardi
Pisa, Stella Maris F. Moro
Roma, Cattolica P. Chiurazzi
Siena A. Renieri
Trieste A. Amoroso
Troina, OASI M. Fichera