| 000 | 02396na a2200229 4500 | ||
|---|---|---|---|
| 003 | H12O | ||
| 005 | 20180417112241.0 | ||
| 008 | 130622s2011 xxx||||| |||| 00| 0 eng d | ||
| 040 | _cH12O | ||
| 041 | _aeng | ||
| 100 |
_aCruz Rojo, Jaime _9794 _ePediatría |
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| 245 | 0 | 0 |
_aIdentification of a Gypsy SHOX mutation (p.A170P) in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia _h[artículo] |
| 260 |
_bEuropean Journal of Human Genetics, _c2011 |
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| 300 | _a19(12):1218-1225. | ||
| 500 | _aFormato Vancouver: Barca Tierno V, Aza Carmona M, Barroso E, Heine Suner D, Azmanov D, Rosell J, et al. Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. Eur J Hum Genet. 2011;19(12):1218-25. | ||
| 501 | _aPMID: 21712857 | ||
| 504 | _aContiene 24 referencias | ||
| 520 | _aWe report the clinical and molecular characteristics of 12 Spanish families with multiple members affected with Léri-Weill dyschondrosteosis (LWD) or Langer mesomelic dysplasia (LMD), who present the SHOX (short stature homeobox gene) mutation p.A170P (c.508G>C) in heterozygosity or homozygosity, respectively. In all studied families, the A170P mutation co-segregated with the fully penetrant phenotype of mesomelic limb shortening and Madelung deformity. A shared haplotype around SHOX was observed by microsatellite analysis, confirming the presence of a common ancestor, probably of Gypsy origin, as 11 of the families were of this ethnic group. Mutation screening in 359 Eastern-European Gypsies failed to identify any carriers. For the first time, we have shown SHOX expression in the human growth plate of a 22-week LMD fetus, homozygous for the A170P mutation. Although the mutant SHOX protein was expressed in all zones of the growth plate, the chondrocyte columns in the proliferative zone were disorganized with the chondrocytes occurring in smaller columnal clusters. We have also identified a novel mutation at the same residue, c. 509C>A (p.A170D), in two unrelated Spanish LWD families, which similar to A170P mutation impedes nuclear localization of SHOX. In conclusion, we have identified A170P as the first frequent SHOX mutation in Gypsy LWD and LMD individuals. | ||
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_9446 _aServicio de Pediatría-Neonatología |
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_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/3/pc334.pdf _ySolicitar documento |
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_n0 _2ddc _cART |
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_c334 _d334 |
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