[Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(1): 21-25, 2023 Jan 10.
Article
in Zh
| MEDLINE
| ID: mdl-36584995
ABSTRACT
OBJECTIVE:
To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.METHODS:
Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2.RESULTS:
The proband of pedigree 1 was a fetus at 23+5 weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up.CONCLUSION:
The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Eye Abnormalities
/
Kidney Diseases, Cystic
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2023
Type:
Article
Affiliation country:
China