PMID- 17091221
OWN - NLM
STAT- MEDLINE
DCOM- 20070316
LR  - 20200209
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 52
IP  - 1
DP  - 2007
TI  - Identification and characterization of different SHOX gene deletions in patients 
      with Leri-Weill dyschondrosteosys by MLPA assay.
PG  - 21-27
LID - 10.1007/s10038-006-0074-5 [doi]
AB  - 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.
FAU - Gatta, Valentina
AU  - Gatta V
AD  - Department of Biomedical Sciences and Aging Research Center, Ce.S.I., G. 
      d'Annunzio University Foundation, Via dei Vestini 35, Chieti-Pescara, 66013, 
      Italy.
FAU - Antonucci, Ivana
AU  - Antonucci I
AD  - Department of Biomedical Sciences and Aging Research Center, Ce.S.I., G. 
      d'Annunzio University Foundation, Via dei Vestini 35, Chieti-Pescara, 66013, 
      Italy.
FAU - Morizio, Elisena
AU  - Morizio E
AD  - Service of Human Genetics, Pescara Hospital, Pescara, Italy.
FAU - Palka, Chiara
AU  - Palka C
AD  - IRCCS-CSS San Giovanni Rotondo and CSS-Mendel Rome, Rome, Italy.
FAU - Fischetto, Rita
AU  - Fischetto R
AD  - Azienda Ospedaliera ''Di Venere'' e ''Giovanni XXIII'', Sezione di Genetica 
      Medica, Bari, Italy.
FAU - Mokini, Vahe
AU  - Mokini V
AD  - Service of Medical Genetics, University Hospital Center "Mother Theresa", Tirana, 
      Albania.
FAU - Tumini, Stefano
AU  - Tumini S
AD  - Dipartimento di Pediatria e Ginecologia, Universita "G D'Annunzio", Chieti, 
      Italy.
FAU - Calabrese, Giuseppe
AU  - Calabrese G
AD  - Department of Biomedical Sciences and Aging Research Center, Ce.S.I., G. 
      d'Annunzio University Foundation, Via dei Vestini 35, Chieti-Pescara, 66013, 
      Italy.
AD  - Service of Human Genetics, Pescara Hospital, Pescara, Italy.
FAU - Stuppia, Liborio
AU  - Stuppia L
AD  - 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.
AD  - I.T.O.I.-CNR, Bologna, Italy. stuppia@unich.it.
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
DEP - 20061108
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Homeodomain Proteins)
RN  - 0 (SHOX protein, human)
RN  - 0 (Short Stature Homeobox Protein)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Chromosomes, Human, X/metabolism
MH  - Dwarfism/*diagnosis
MH  - Female
MH  - *Gene Deletion
MH  - Growth Disorders/diagnosis/*genetics
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Male
MH  - Osteochondrodysplasias/diagnosis/*genetics
MH  - Polymerase Chain Reaction/*methods
MH  - Short Stature Homeobox Protein
EDAT- 2006/11/09 09:00
MHDA- 2007/03/17 09:00
CRDT- 2006/11/09 09:00
PHST- 2006/07/05 00:00 [received]
PHST- 2006/09/21 00:00 [accepted]
PHST- 2006/11/09 09:00 [pubmed]
PHST- 2007/03/17 09:00 [medline]
PHST- 2006/11/09 09:00 [entrez]
AID - 10.1007/s10038-006-0074-5 [pii]
AID - 10.1007/s10038-006-0074-5 [doi]
PST - ppublish
SO  - J Hum Genet. 2007;52(1):21-27. doi: 10.1007/s10038-006-0074-5. Epub 2006 Nov 8.