A case report of Joubert syndrome caused by KIAA0586 gene mutation
10.3760/cma.j.cn101070-20210330-00378
- VernacularTitle:KIAA0586基因突变所致Joubert综合征1例
- Author:
Huiting ZHANG
1
;
Chunyan LIU
;
Qi ZENG
;
Yuanzhen YE
;
Sufang LIN
;
Dongfang ZOU
;
Jianxiang LIAO
Author Information
1. 中国医科大学深圳市儿童医院神经内科，深圳 518038
- Keywords:
Joubert syndrome;
KIAA0586 gene;
Molar tooth signs;
Synonymous variants
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(15):1184-1186
- CountryChina
- Language:Chinese
-
Abstract:
The main clinical phenotypes, imaging features and genetic test results of a child with Joubert syndrome treated in Shenzhen Children′s Hospital in July 2020 were analyzed retrospectively, and the literature on Joubert syndrome was summarized.The main manifestations of the protester during infancy were respiratory abnormalities and developmental retardation.The brain magnetic resonance imaging (MRI) showed a " molar sign" , which was consistent with the diagnosis of Joubert syndrome.Genetic testing suggested that the protestor carried complex heterozygous variations of KIAA0586 gene.Two variants were not reported previously, one of which was synonymous mutation.The child is the first case of Joubert syndrome caused by KIAA0586 gene in China.Joubert syndrome is a rare congenital brain development malformation characterized by high clinical heterogeneity and MRI molar signs.It may involve multiple systems.Early identification and intervention can improve outcomes.
