Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature
Zhengxia Liu,
Shuxia Ding,
Guangwei Xu
et al.
Abstract:Proline Rich 12 (PRR12) protein is primarily expressed in the brain and localized in the nucleus. The variants in the PRR12 gene were reported to be related to neuroocular syndrome. Patients with PRR12 gene presented with intellectual disability (ID), neuropsychiatric disorders, some congenital anomalies, and with or without eye abnormalities. Here, we report an 11-year-old boy with a novel PRR12 variant c.1549_1568del, p.(Pro517Alafs*35). He was the first PRR12 deficiency patient in China and presented with I… Show more
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