title: Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.
abstract: Deletions of the SHOX gene (Xp22-Yp11.3) are associated with Leri-Weill dyschondrosteosys (LWD) and idiopathic short stature. It has been estimated that SHOX deletions occur in 1,000-2,000 individuals in the total population, suggesting that this alteration should be investigated in all cases with unexplained short stature. SHOX deletions are currently investigated using fluorescence in situ hybridization (FISH) or molecular analysis of intragenic CA repeats. However, both techniques show some limitations. In the present study, the use of the multiple ligation probe amplification (MLPA) assay for the identification and characterization of SHOX deletions in 15 LWD patients, 3 of which carriers of chromosome abnormalities involving the SHOX gene, is reported. MLPA analysis demonstrated the heterozygous deletion of SHOX in seven patients (46.6%), disclosing the presence of two different proximal breakpoints. In patients with abnormal karyotype, MLPA analysis was able to identify the chromosomal rearrangement, showing, in addition to the SHOX deletions, the gain or loss of other genes mapped on the X and Y chromosomes. Since MLPA analysis can be carried out on a simple buccal swab, avoiding invasive peripheral blood collection, this technique represents a fast, simple and high throughput approach in the screening of SHOX deletions, able to provide more information as compared to FISH and microsatellite analysis.
authors.affiliation: Department of Biomedical Sciences and Aging Research Center, Ce.S.I., G. d'Annunzio University Foundation, Via dei Vestini 35, Chieti-Pescara, 66013, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Gatta
authors.affiliation: Department of Biomedical Sciences and Aging Research Center, Ce.S.I., G. d'Annunzio University Foundation, Via dei Vestini 35, Chieti-Pescara, 66013, Italy.
authors.forename: Ivana
authors.initials: I
authors.lastname: Antonucci
authors.affiliation: Service of Human Genetics, Pescara Hospital, Pescara, Italy.
authors.forename: Elisena
authors.initials: E
authors.lastname: Morizio
authors.affiliation: IRCCS-CSS San Giovanni Rotondo and CSS-Mendel Rome, Rome, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Palka
authors.affiliation: Azienda Ospedaliera ''Di Venere'' e ''Giovanni XXIII'', Sezione di Genetica Medica, Bari, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Fischetto
authors.affiliation: Service of Medical Genetics, University Hospital Center "Mother Theresa", Tirana, Albania.
authors.forename: Vahe
authors.initials: V
authors.lastname: Mokini
authors.affiliation: Dipartimento di Pediatria e Ginecologia, Università "G D'Annunzio", Chieti, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Tumini
authors.affiliation: Department of Biomedical Sciences and Aging Research Center, Ce.S.I., G. d'Annunzio University Foundation, Via dei Vestini 35, Chieti-Pescara, 66013, Italy.|Service of Human Genetics, Pescara Hospital, Pescara, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calabrese
authors.affiliation: Department of Biomedical Sciences and Aging Research Center, Ce.S.I., G. d'Annunzio University Foundation, Via dei Vestini 35, Chieti-Pescara, 66013, Italy. stuppia@unich.it.|I.T.O.I.-CNR, Bologna, Italy. stuppia@unich.it.
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D041321:Chromosomes, Human, X / Q000378:metabolism; D004392:Dwarfism / Q000175:diagnosis*; D005260:Female; D017353:Gene Deletion; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D000074122:Short Stature Homeobox Protein
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein