Fengchang Qiao,* Huasha Zeng,* Cuiping Zhang, Yan Wang, Yuguo Wang, Ran Zhou, Lulu Meng, Ping Hu, Zhengfeng Xu

Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University(Nanjing Women and Children’s Healthcare Hospital), Nanjing, People’s Republic of China

*These authors contributed equally to this work

Correspondence: Zhengfeng Xu, Email zhengfeng_xu_nj@163.com Ping Hu, Email njfybjyhuping@163.com

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.

Keywords: EBP, c.452A>G, p.Gln151Arg, exome sequencing, CDPX2