Article Text

Download PDFPDF
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis
  1. C Falcinelli1,
  2. L Iughetti2,
  3. A Percesepe1,
  4. G Calabrese3,
  5. F Chiarelli4,
  6. M Cisternino5,
  7. L De Sanctis6,
  8. I Pucarelli7,
  9. G Radetti8,
  10. M Wasniewska9,
  11. G Weber10,
  12. L Stuppia3,11,
  13. S Bernasconi12,
  14. A Forabosco1
  1. 1Cattedra di Genetica Medica, Università di Modena, Via del Pozzo 71, 41100 Modena, Italy
  2. 2Dipartimento di Pediatria, Policlinico di Modena, Via del Pozzo 71, 41100 Modena, Italy
  3. 3Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università di Chieti, Via dei Vestini 35, 66013 Chieti, Italy
  4. 4Dipartimento di Medicina e Scienze dell'Invecchiamento, Sezione di Pediatria e Neonatologia, Università di Chieti, Via dei Vestini 35, 66013 Chieti, Italy
  5. 5Dipartimento Scienze Pediatriche IRCCS, Policlinico S Matteo, Piazzale Policlinico 2, 27100 Pavia, Italy
  6. 6Dipartimento Scienze Pediatriche, Università di Torino, C Polonia 94, 10126 Torino, Italy
  7. 7Clinica Pediatrica, Università “La Sapienza”, Viale del Policlinico 155, 00161 Roma, Italy
  8. 8Divisione di Pediatria, Ospedale Regionale di Bolzano, V Bohler Lorenz 5, 39100 Bolzano, Italy
  9. 9Dipartimento di Scienze Pediatriche, Università di Messina, Piazza Venti Settembre 2, 98122 Messina, Italy
  10. 10Dipartimento di Pediatria, Istituto Scientifico San Raffaele, Università di Mollano, Via Olgettina 60, 20132 Milano, Italy
  11. 11Istituto di Citomorfologia Normale e Patologica CNR, Via dei Vestini 35, 66013 Chieti, Italy
  12. 12Dipartimento di Pediatria, Università di Parma, Via Gramsci 14, 43100 Parma, Italy
  1. Correspondence to:
 Dr A Forabosco, Cattedra di Genetica Medica, Università di Modena, Via del Pozzo 71, 41100 Modena, Italy;

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

SHOX (Short HOmeoboX containing gene) (OMIM 312865) is the single gene found in the “short stature critical region”, a 170 kb DNA segment of the pseudoautosomal (PAR1) region identified through genotype/phenotype correlations in X/Y abnormalities.1 The finding of a mutation generating a premature stop codon in exon 5 of SHOX, cosegregating with idiopathic short stature (ISS), provided evidence for the involvement of this gene in growth retardation, including the short stature of Turner syndrome.1 At the heterozygous level, large deletions or point mutations of the SHOX gene have been found in families affected by Leri-Weill dyschondrosteosis (LWD, OMIM 127300), a dominantly inherited skeletal dysplasia with disproportionate short stature owing to mesomelic shortening of the forearm and lower leg and Madelung deformity of the arm.2,3 In addition, the biallelic inactivation of the SHOX gene was shown in fetuses with Langer-type mesomelic dysplasia (OMIM 249700),2,3 a recessive form of dwarfism which was confirmed as the homozygous counterpart of LWD, as previously proposed on a clinical genetic basis.4

Some authors reported mutations in all the LWD cases studied,3,5 whereas others found SHOX mutations in about 60% of the cases.6,7 The same proportion of SHOX gene mutations are reported in the present study based on the analysis of a large group of Italian LWD families.


Patients and families were recruited, after informed consent, in the context of a collaborative study in several Italian paediatric endocrinology centres. Height and sitting height were measured to nearest 0.1 cm using a Harpenden anthropometer and measurements were converted into centiles, according to the Tanner tables. All subjects were submitted to x ray examination including the forearms and lower legs.

Inclusion criteria for the study were: (1) normal karyotype, with lack of demonstrable sex chromosome abnormality using …

View Full Text