Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.
Nanis Sacharina Marzuki, Hannie DH Kartapradja, Firman Pratama Idris
✦ AI-curated · Sources linked
Case in brief
Two young patients were diagnosed with campomelic dysplasia, with characteristic skeletal findings including bowed lower limbs, pretibial dimples, Pierre Robin sequence, and bilateral clubfoot, as well as motor and speech delays. One was a 46,XY infant with sex reversal and a heterozygous SOX9 p.Arg107Gly variant; the other was a 1.5-year-old boy with typical male external genitalia and a heterozygous p.Ala116Val variant. Both variants were in the SOX9 high mobility group domain and were reported in association with the disorder.
What made this case unusual
The two SOX9 variants in the same domain were associated with different sex phenotypes: sex reversal in the 46,XY infant and typical male external genitalia in the other patient.
Diagnostic / clinical pearl
In campomelic dysplasia, SOX9 variants within the same functional domain may be associated with differing sex phenotypes; genotype location alone does not specify the observed phenotype in these cases.