Liu Zhengxia, Ding Shuxia, Xu Guangwei, Fang Chunyan
Department of Neurology, Women and Children's Hospital Affiliated to Ningbo University, Ningbo, Zhejiang, China.
Department of Endocrinology, Women and Children's Hospital Affiliated to Ningbo University, Ningbo, Zhejiang, China.
Front Pediatr. 2024 May 9;12:1367131. doi: 10.3389/fped.2024.1367131. eCollection 2024.
Proline Rich 12 (PRR12) protein is primarily expressed in the brain and localized in the nucleus. The variants in the gene were reported to be related to neuroocular syndrome. Patients with 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 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 variants. Our study further expands on the variants and presents a new case involving variants.
富含脯氨酸12（PRR12）蛋白主要在大脑中表达并定位于细胞核。据报道，该基因的变异与神经眼综合征有关。携带该基因变异的患者表现为智力残疾（ID）、神经精神障碍、一些先天性异常，有或没有眼部异常。在此，我们报告一名11岁男孩，携带一种新的变异c.1549_1568del，p.（Pro517Alafs*35）。他是中国首例PRR12缺陷患者，表现为智力残疾、身材矮小和轻度脊柱侧弯。他无法集中精力学习，被诊断为注意力缺陷多动障碍（ADHD）。我们的患者胰岛素样生长因子1（IGH-1）水平较低，这可能是他身材矮小的原因。神经眼综合征患者罕见，需要进一步探索以了解由该变异导致神经发育异常的原因。我们的研究进一步扩展了该变异，并呈现了一个涉及该变异的新病例。
