Nueva variante patogénica en el gen SOX9 relacionada con la displasia campomélica

• Autores: Guapi nauñay, Victor Hugo, Lima Berru, Gabriela Nataly, Padilla Medina, Angelo Napoleon, Porras Borja, Fabián David
• Formato: artículo
• Fecha de Publicación: 2024
• Institución: Universidad Nacional Federico Villarreal
• Repositorio: Revistas - Universidad Nacional Federico Villarreal
• Lenguaje: español
• OAI Identifier: oai:ojs2.revistas.unfv.edu.pe:article/1785
• Enlace del recurso: https://revistas.unfv.edu.pe/rtb/article/view/1785
• Nivel de acceso: acceso abierto
• Materia: Condrogénesis; displasia campomélica; factor de transcripción SOX9; mutación missense; síndrome de Pierre Robin; Campomelic displasia; chondrogenesis; missense mutation; Pierre Robin síndrome; SOX9 transcription factor

Campomelic dysplasia is a skeletal dysplasia, characterized by the Pierre Robin sequence with cleft palate, associated with bowing and shortening of the long bones. This research aimed to report a variant with a missense change in the SOX9 gene that was previously described as uncertain meaning, in an infant with clinical-radiological characteristics for campomelic dysplasia. Male patient seven days old, what was evaluated by clinical genetics, who presented the physical examination Robin sequence with cleft soft palate, lower extremities with dimpled skin over curved long bones, with brachydactyly and equinovarus feet. The radiographs showed a narrow chest with 11 pairs of ribs, hypoplasia of the scapulae, non-mineralized hypoplastic pedicles of the thoracic vertebrae, anterolateral bowing (at the junction of the proximal 1/3 and the distal 2/3) in the femurs, tibias with slight anterior arching. The bones of the upper extremities are not arched. Given this circumstancencia proposes sequencing study, whole exome tha identiphies in heterozygosity the missense type variant in exon 1 of the SOX9 gene (NM_000346.4), c.347C>T, p.(Ala116Val), which is related to campomelic dysplasia; while the cariotypewas46, XY. At control, at five months old in the patient persist onto anthropometry below the third percentile according to WHO growth curves, and with he antecedent of two respiratory conditions. The identified variant could to be considered pathogenic, since the infant presented mostly meets the clinical-radiological criterio described for the campomelic dysplasia.