A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis.

BACKGROUND

Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an X-linked dominant inherited disorder caused by variants in the EBP gene, which primarily affects the skin, bones, and eyes.

OBJECTIVE

To describe the clinical manifestations and genetic mutation in a 7-year-old girl presenting with severe scoliosis, hydronephrosis, and other skeletal abnormalities.

METHODS

The patient's medical history was collected from birth. Exome sequencing was performed to identify candidate genes, and the detected variant was confirmed by Sanger sequencing.

RESULTS

Exome sequencing revealed a de novo EBP mutation (c.452A>G, p.Gln151Arg) in the patient.

CONCLUSION

The patient was diagnosed with X-linked chondrodysplasia punctata type 2 (CDPX2). This novel missense mutation expands the mutation spectrum of CDPX2 and underscores the clinical utility of exome sequencing in diagnosing this condition.