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Campomelic Dysplasia (CD)

  • SOX9
Campomelic dysplasia (CD) is a rare, often lethal skeletal dysplasia characterized by angular bowing and shortening of the long bones, severe respiratory distress, and XY sex reversal. Other features of CD include club feet, a bell-shaped and underdeveloped thorax, eleven pairs of ribs, hypoplastic scalpulae, micrognathia, midfacial hypoplasia, a long philtrum, hypertelorism, and Pierre Robin cleft palate. A small subgroup of patients with CD lack significant bowing of the limbs and are described as having acampomelic campomelic dysplasia (ACD).

SOX9 is the only gene known to be associated with campomelic dysplasia. An estimated 5% of patients with CD have genomic rearrangements that encompass SOX9 or have breakpoints surrounding the SOX9 locus on chromosome 17q that are typically detectable on routine karyotype analysis or whole genome array CGH. Of patients with a clinical diagnosis of CD or ACD that have a normal karyotype, an estimated 90-95% have mutations in the SOX9 gene that are identifiable by sequencing and an estimated 5% have deletions of the SOX9 gene that would be missed by sequencing but would be detected by ExonArrayDx or other methods of deletion analysis.

Analysis is performed by bi-directional sequencing of all 3 coding exons and the exon/intron splice junctions of the SOX9 gene. In addition, if no mutation is found by sequencing, targeted array CGH analysis with exon-level resolution (ExonArrayDx) is available to evaluate for a deletion or duplication of one or more exons of the SOX9 gene. Mutations found in the first person of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis, or another appropriate method.

For pregnancies with ultrasound anomalies suggestive of campomelic dysplasia, SOX9 sequencing and ExonArrayDx deletion/duplication testing are performed concurrently to facilitate the fastest turn-around-time with the highest sensitivity.

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SOX9, campomelic dysplasia, campomelia, CMPS, acampomelic campomelic dysplasia

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