Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1062-1066, 2019.
Article
in Zh
| WPRIM
| ID: wpr-776746
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To explore the spectrum of genetic variants among patients with hyperphenylalaninemia (HPA) from Quanzhou area of Fujian province.@*METHODS@#For 63 children affected with HPA, next generation sequencing was used to identify potential variants in PAH, PTS, PCBD1, QDPR, SPR and GCH1 genes.@*RESULTS@#Fifty two variants underlying phenylalanine hydroxylase deficiency (PAHD) and 13 variants underlying 6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) were identified. Two patients carried variants of both PAH and PTS genes. The most common variants of the PAH gene were R53H (21.69%), R241C(18.07%), R243Q(12.05%) and EX6-96A to G (7.23%), which were mainly located in exons 7 (32.53%), 2 (21.69%), 6 (9.64%) and 12 (9.64%). The L227M variant of the PAH gene was unreported previously. N52S (35.00%), P87S (25.00%), IVS1-291A to G (10.00%) and T67M (10.00%) variants were the most common variants for the PTS gene and were mainly located in exons 2 (35.00%) and 5 (35.00%).@*CONCLUSION@#The variant spectrum underlying HPA in Quanzhou area showed a geographical specificity. A novel variant of the PAH gene (L227M) has been detected.
Full text:
1
Index:
WPRIM
Main subject:
Phenylalanine Hydroxylase
/
Phenylketonurias
/
China
/
Exons
/
Phosphorus-Oxygen Lyases
/
High-Throughput Nucleotide Sequencing
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Genetics
/
Mutation
Type of study:
Prognostic_studies
Limits:
Child
/
Humans
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article