Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: Double trouble in two adjacent genes

Hormone Research

Volumn 69, Issue 2, 2008, Pages 124-128

  Messina, M F ^a   Aguennouz, M ^a   Arrigo, T ^a   Rodolico, C ^a   Valenzise, M ^a   Musumeci, O ^a   Vita, G ^a   Lanzano, N ^a   De Luca, F ^a,b  

^a UNIVERSITY OF MESSINA   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

Author keywords

Becker muscular dystrophy; Duchenne muscular dystrophy; Dystrophin gene; Novel SHOX gene mutation; Short stature

Indexed keywords

HOMEODOMAIN PROTEIN; PROTEIN SHOX; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CHILD; CHROMOSOME XP; CLINICAL FEATURE; ELECTROMYOGRAPHY; GENE MUTATION; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; MUSCLE BIOPSY; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SHORT STATURE;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION;

EID: 38349006957     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000111816     Document Type: Article

References (24)

1. Emery AE II: Population frequency of inherited neuromuscular diseases: a world survey. Neuromuscul Disord 1991;1:19-20.
2. Dubowitz V: Muscle Disorders in Childhood, ed 2. London, Saunders, 1995, pp 34-133.
3. Comi GP, Prelle A, Bresolin N, Moggio M, Bardoni A, Gallanti A, Vita G, Toscano A, Ferro MT, Bordoni A: Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain 1994;117:1-14.
4. Emery AE II: Duchenne Muscular Dystrophy, ed 2. New York, Oxford University Press, 1993.
5. Call G, Ziter FA: Failure to thrive in Duchenne muscular dystrophy. J Pediatr 1985;106:939-941.
6. Eiholzer U, Boltshauser E, Frey D, Molinari L, Zachmann M: Short stature: a common feature in Duchenne muscular dystrophy. Eur J Pediatr 1988;147:602-605.
7. Rapaport D, Colletto GM, Vainzof M, Duaik MC, Zatz M: Short stature in Duchenne muscular dystrophy. Growth Regul 1991;1:11-15.
8. Rapisarda R, Muntoni F, Gobbi P, Dubowitz V: Duchenne muscular dystrophy presenting with failure to thrive. Arch Dis Child 1995;72:437-438.
9. Nagel BHP, Mortier W, Elmlinger M, Wollmann HA, Schmitt K, Ranke MB: Short stature in Duchenne muscular dystrophy: a study of 34 patients. Acta Paediatr 1999;88:62-65.
10. Marconi G, Taiuti R, Sbrilli C, Pizzi A: Becker and limb-girdle muscular dystrophy associated with pituitary dwarfism. J Neurol 1987;234:430-432.
11. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54-63.
12. Ross JL, Kowal K, Quigley CA, Blum WF, Cutler GB Jr, Crowe B, Hovanes K, Elder FF, Zinn AR: The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. J Pediatr 2005;147:499-507.
13. Blaschke RJ, Rappold G: The pseudoautosomal regions, SHOX and disease. Curr Opin Genet Dev 2006;16:233-239.
14. Usher R, McLean F: Intrauterine growth of live-born, Caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation. J Pediatr 1969;74:901-910.
15. Cacciari E, Milani S, Balsamo A, Spada E, Bona G, Cavallo L, Cerutti F, Gargantini L, Greggio N, Tonini G, Cicognani A: Italian cross-sectional growth charts for height, weight and BMI (2-20 years). J Endocrinol Invest 2006;29:581-593.
16. Greulich WW, Pyle SI: Radiographic Atlas of Skeletal Development of the Hand and Wrist. Stanford, University Press, 1959.
17. Benso L, Guidetti Morisio L, Pastorin L, Vista N, Rota A, Orru D, Gambotto S, Barbaglia M, Segal A, Callipari D: The sitting height of children in Turin. Males and females from 3 to 11 years of age. Minerva Pediatr 1988;40:133-139.
18. Beggs AH, Koenig M, Boyce FM, Kunkel LM: Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;86:45-48.
19. Huber C, Rosilio M, Munnich A, Cormier-Daire V, French SHOX GeNeSIS Module: High incidence of SHOX anomalies in individuals with short stature. J Med Genet 2006;43:735-739.
20. Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K: Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients. J Clin Endocrinol Metab 2001;86:5498-5508.
21. Jorge AAL, Souza SC, Nishi MY, Billerbeck AE, Liborio DC, Kim CA, Arnhold IJ, Mendonca BB: SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Clin Endocrinol 2007;66:130-135.
22. Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL: Complete SHOX deficiency causes Langer mesomelic dysplasia. Am J Med Genet 2002;110:158-163.
23. Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Hausler G, Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB: SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex and degree of wrist deformity. J Clin Endocrinol Metab 2004;89:4403-4408.
24. Binder G, Fritsch H, Schweizer R, Ranke MB: Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome. Horm Res 2001;55:71-76.