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Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature
Zhengxia Liu1, Shuxia Ding2, Guangwei Xu3
1Department of Neurology, Women and Children's Hospital Affiliated to Ningbo University, Ningbo, Zhejiang, China.
Insights
This study details a novel Proline Rich 12 (PRR12) gene variant in a Chinese boy with intellectual disability and ADHD. The findings expand understanding of PRR12 variants and neurodevelopmental disorders.
Area of Science:
- Genetics
- Neuroscience
- Developmental Biology
Background:
- Proline Rich 12 (PRR12) protein is predominantly found in the brain's nucleus.
- PRR12 gene variants are associated with neuroocular syndrome, characterized by intellectual disability (ID), neuropsychiatric issues, and congenital anomalies, with or without ocular abnormalities.
Observation:
- A novel PRR12 variant (c.1549_1568del, p.(Pro517Alafs*35)) was identified in an 11-year-old Chinese boy, marking the first reported case of PRR12 deficiency in China.
- The patient exhibited ID, short stature, mild scoliosis, and attention deficit hyperactivity disorder (ADHD).
Findings:
- The patient presented with a unique combination of neurodevelopmental and physical characteristics linked to the novel PRR12 variant.
- Low insulin-like growth factor 1 (IGF-1) levels were observed, potentially explaining the patient's short stature.
Implications:
- This case expands the known spectrum of PRR12 variants and their associated clinical phenotypes.
- Further research is crucial to elucidate the mechanisms underlying neurodevelopmental abnormalities caused by PRR12 variants and to understand the broader impact of neuroocular syndromes.
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 ID, short stature, and mild scoliosis. He could not concentrate on his studies and was diagnosed with attention deficit hyperactivity disorder (ADHD). The insulin-like growth factor 1 (IGH-1) was low in our patient, which may be the cause of his short stature. Patients with neuroocular syndrome are rare, and further exploration is needed to understand the reason for neurodevelopmental abnormalities caused by PRR12 variants. Our study further expands on the PRR12 variants and presents a new case involving PPR12 variants.
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