Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China
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Lin Wang
Abstract
Background:
This study aims to investigate the spectrum and frequency of phenylalanine hydroxylase (PAH) gene mutations and the power to prenatally diagnose phenylketonuria (PKU) patients in Shaanxi, China.
Methods:
Polymerase chain reaction (PCR) and DNA sequencing analyses were performed to examine the PAH gene in 33 PKU patients and seven amniotic fluid samples. Thirty-four pathogenic variants were indicated in all 63 alleles, in which two probands carried three variants.
Results:
Pedigree analysis suggested that the [c.158G>A([p.R53H)][IVS7+2T>A] mutation was located at the same chromatid. However, there was a controversial viewpoint that thought the c.158G>A(p.R53H) variant was a polymorphism in the Chinese. We also found one novel indel mutation and identified the c.59_60delAGinsCC mutation of the PAH gene for the very first time. The spectrum of the PAH mutations in Shaanxi Province were similar to that among China’s population. Based on the results of PAH gene analysis, we further performed prenatal genetic diagnoses for seven PKU families. All foetuses were definitively diagnosed, and their parents were provided with genetic counselling.
Conclusions:
PAH gene analysis is a crucial method for PKU diagnosis and prenatal genetic prognosis, even though many uncommon mutations would affect the analysis and diagnosis of genetic abnormalities.
Author’s contributions: Rong Qiang and Lin Wang performed the study. Shuwen Xin, Qiuhua Wu and Wenwen Yu carried out sample and data acquisition. Xiaobin Wang, Bin He, Na Cai, Wei Li and Chao Lou provided intellectual input and drafted the manuscript. All authors provided intellectual contributions to the manuscript and read and approved the final version. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Mini Review
- Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature
- Original Articles
- The role of enterovirus infections in type 1 diabetes in Tunisia
- Serum progranulin levels in relation to insulin resistance in childhood obesity
- Relation between circulating oxidized-LDL and metabolic syndrome in children with obesity: the role of hypertriglyceridemic waist phenotype
- Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand
- Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province
- The use of a radiolucent template to improve bone age X-ray quality (BASIC study)
- How often are clinicians performing genital exams in children with disorders of sex development?
- Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis
- Higher phthalate concentrations are associated with precocious puberty in normal weight Thai girls
- Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
- Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
- Case Reports
- Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin
- A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
- High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum
- A newborn with combined pituitary hormone deficiency developing shock and sludge
- Acknowledgment
Articles in the same Issue
- Frontmatter
- Mini Review
- Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature
- Original Articles
- The role of enterovirus infections in type 1 diabetes in Tunisia
- Serum progranulin levels in relation to insulin resistance in childhood obesity
- Relation between circulating oxidized-LDL and metabolic syndrome in children with obesity: the role of hypertriglyceridemic waist phenotype
- Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand
- Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province
- The use of a radiolucent template to improve bone age X-ray quality (BASIC study)
- How often are clinicians performing genital exams in children with disorders of sex development?
- Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis
- Higher phthalate concentrations are associated with precocious puberty in normal weight Thai girls
- Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
- Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
- Case Reports
- Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin
- A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
- High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum
- A newborn with combined pituitary hormone deficiency developing shock and sludge
- Acknowledgment
