An illustrative case of Léri-Weill dyschondrosteosis

AUTOR(ES)

Lima, Renata de, Iamada, Cristina Forti, Silva, Luciana Oliveira, Mello, Maricilda Palandi de, Maciel-Guerra, Andréa Trevas

FONTE

Genetics and Molecular Biology

DATA DE PUBLICAÇÃO

19/11/2008

RESUMO

We report on a girl presenting Léri-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.

Documentos Relacionados

• Estudo do gene SHOX em casos de discondrosteose de Léri Weill e displasia mesomélica de Langer
• Deleção críptica intragênica do gene SHOX em uma família com discondrosteose de Léri-Weill detectada por Multiplex Ligation-Dependent Probe Amplification (MLPA)
• SPONTANEOUS RUPTURE OF THE GLAUCOMATOUS EYE: AN ILLUSTRATIVE CASE
• Palatal Schwannoma: An Analysis of 45 Literature Reports and of an Illustrative Case
• The usefulness of functional imaging in movement disorders: an illustrative case.