An illustrative case of Leri-Weill dyschondrosteosis

Autor(es)

de Lima, Renata ^{[1, 2]} ; Iamada, Cristina Forti ^[3] ; Silva, Luciana Oliveira ^[3] ; de Mello, Maricilda Palandi ; Maciel-Guerra, Andrea Trevas ^[1]

Afiliação do(s) autor(es)

^[1] Univ Estadual Campinas, Dept Med Genet, BR-3083970 Campinas, SP - Brazil

^[2] Univ Estadual Campinas, Lab Genet Humana, Ctr Biol Mol & Engn Genet, BR-3083970 Campinas, SP - Brazil

^[3] Univ Estadual Campinas, Dept Pediat, Fac Ciencias Med, BR-3083970 Campinas, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: GENETICS AND MOLECULAR BIOLOGY; v. 31, n. 4, p. 839-842, 2008.
• Citações Web of Science: 0

Resumo

We report on a girl presenting Leri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstrated through detection of hemizygosity for microsatellite markers SHOX-CA repeat, DXYS10092, DXYS10093 and DXYS10091 localized around the SHOX gene, with retention of paternal alleles in the proband and three of her sisters who had short stature as the only clinical feature. Hemizygosity for these loci was also observed in their mother, who had short stature too. The deletion in the proband was however larger, including locus DXY10083. The proband's only sister with normal height did not carry the deletion. Family history suggests transmission of the deletion from the proband's maternal great-grandfather to her grandfather via the Y chromosome, and from the grandfather to the proband's mother via the X chromosome after crossing-over in the pseudoautosomal region proximal to the SHOX gene. (AU)

• Processo FAPESP: 01/06989-7 - Análise do gene SHOX (short stature homeobox-containing gene) em indivíduos com baixa estatura, associado ou não a anomalias esqueléticas sugestivas da síndrome de Leri-Weill
• Beneficiário: Andrea Trevas Maciel Guerra
• Modalidade de apoio: Auxílio à Pesquisa - Regular