[Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 129-133, 2024 Feb 10.
Article
in Zh
| MEDLINE
| ID: mdl-38311548
ABSTRACT
OBJECTIVE:
To explore the genetic basis of eighteen patients with Tetrahydrobiopterin deficiency (BH4D) from Gansu Province.METHODS:
Eighteen patients diagnosed with BH4D at Gansu Provincial Maternal and Child Health Care Hospital from January 2018 to December 2021 were selected as the study subjects. Whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing.RESULTS:
All of the thirty-six alleles of the eighteen patients were successfully determined by molecular genetic testing. Sixteen patients were found to harbor variants of the PTS gene, and two had harbored variants of the QDPR gene. Ten variants were detected in the PTS gene, with the most common ones being c.259C>T (34.38%) and c.286G>A (15.63%). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.259C>T was classified as a pathogenic variant, whilst the c.286G>A, c.166G>A, c.200C>T, c.272A>G, c.402A>C, c.421G>T, c.84_291A>G and c.317C>T were classified as likely pathogenic variants. A novel c.289_290insCTT variant was classified as likely pathogenic (PM1+PM2_Supporting+PM3+PP3+PP4). The two variants (c.478C>T and c.665C>T) detected in the QDPR gene were both classified as variants of uncertain significance (PM1+PM2_Supporting+PP3+PP4).CONCLUSION:
Genetic testing has clarified the pathogenic variants in these BH4D patients, which has enabled timely and accurate clinical intervention and treatment, and provided a reference for genetic counseling and reproductive guidance for their families.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenylketonurias
Type of study:
Guideline
Limits:
Child
/
Humans
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2024
Document type:
Article
Affiliation country:
China
Publication country:
CHINA
/
CN
/
REPUBLIC OF CHINA