Joubert syndrome with compound heterozygous mutations of RPGRIP1L gene: a case report
10.3760/cma.j.cn441217-20240906-00909
- VernacularTitle:RPGRIP1L基因复合杂合突变朱伯特综合征1例
- Author:
Xiaoying ZHANG
1
;
Zhihui YUE
;
Sijin WANG
;
Liangzhong SUN
Author Information
1. 江门市中心医院儿科，江门 529000
- Publication Type:Journal Article
- Keywords:
Mutations;
Nervous system diseases;
Renal insufficiency;
Joubert syndrome;
Nephronophthisis;
RPGRIP1L gene
- From:
Chinese Journal of Nephrology
2025;41(10):768-771
- CountryChina
- Language:Chinese
-
Abstract:
Joubert syndrome is a rare primary ciliopathy characterized by hypoplasia of the midbrain and vermis cerebellum, with or without extracerebral organs involvement. This article reports a case of Joubert syndrome with RPGRIP1L mutation, presented with anemia, renal dysfunction, growth retardation, and mental retardation. The patient reached end-stage renal disease at the age of 13 years old. Magnetic resonance imaging of the brain revealed slight elongation of the superior cerebellar peduncles, mild hypoplasia of the cerebellar vermis, and the characteristic "molar tooth sign". Elevated transaminase and γ-glutamyl transpeptidase levels were detected at the age of 14 years old. Genetic analysis showed a compound heterozygous mutation in the RPGRIP1L gene (c.1290_1291delGT, c.3764T>C). Joubert syndrome is a clinically heterogeneous disorder and easy to be missed. Early diagnosis and standard treatment contribute to a better prognosis.
