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SHOX mutations detected by FISH and direct sequencing in patients with short stature
  1. L Stuppia1,2,
  2. G Calabrese1,3,
  3. V Gatta1,
  4. S Pintor1,
  5. E Morizio1,3,
  6. D Fantasia1,3,
  7. P Guanciali Franchi1,3,
  8. M M Rinaldi4,
  9. G Scarano5,
  10. D Concolino6,
  11. A Giannotti7,
  12. F Petreschi7,
  13. M T Anzellotti8,
  14. M Pomilio8,
  15. F Chiarelli8,
  16. S Tumini8,
  17. G Palka1,3
  1. 1Dipartimento di Scienze Biomediche, Università “G D’Annunzio”, Chieti, Italy
  2. 2Istituto di Citomorfologia Normale e Patologica CNR, Chieti, Italy
  3. 3Servizio di Genetica Umana, Ospedale Civile di Pescara, Italy
  4. 4Servizio di Genetica Medica, Ospedale Cardarelli, Napoli, Italy
  5. 5Servizio di Genetica Medica, Ospedale di Benevento, Italy
  6. 6Servizio di Pediatria, Ospedale di Catanzaro, Italy
  7. 7Servizio di Genetica, Ospedale Bambino Gesù, Roma, Italy
  8. 8Dipartimento di Pediatria e Ginecologia, Università “G D’Annunzio”, Chieti, Italy
  1. Correspondence to:
 Dr G Palka, Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Via dei Vestini 35, 66013 Chieti, Italy;

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Height is the result of interactions of several factors including those of genetic origin. About 3% of people have short stature and in most of them the cause is unknown.1 Recently, the SHOX gene (short stature homeobox containing gene), mapped on the pseudoautosomal region (PAR1) of the X and Y chromosomes, has been specifically associated with the short stature of patients with Turner syndrome or with Leri-Weill dyschondrosteosis (LWD).2–7 Few data have been reported on the relationship between SHOX mutations and idiopathic short stature. Rao et al2 reported one change among 91 patients with idiopathic short stature, and Binder et al8 found a mutation in one out of 68 patients. The largest study was recently published by Rappold et al,9 who found a frequency of 2.4% of SHOX mutations using fluorescence in situ hybridisation (FISH) on 150 patients and single strand conformational polymorphism analysis (SSCP) on 750 patients.

We report a study carried out on 56 patients with short stature of unknown origin detecting SHOX mutations in seven (12.5%) by using FISH and direct sequencing analyses.



Fifty-six patients, 33 females and 23 males, with a mean age of 12.2 years (range 5-18 years) entered this study. All patients were unrelated, coming from different regions of central and southern Italy. In order to exclude patients with dyschondrosteosis or other diseases associated with short stature, we used the following criteria: (1) height at or below the 3rd centile; (2) absence of obvious skeletal abnormalities on physical examination; (3) absence of other diseases on physical examination and routine analyses; (4) normal bone age; (5) normal hGH values using a polyclonal in house RIA (lower detection limit 0.1 ng/μl, mean intra-assay coefficient of variation 6.9%, and mean interassay coefficient 9.5%); and (6) normal karyotype in 16 metaphases …

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