Publications by authors named "Chenlu Jia"
[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
April 2024
Article Synopsis
- The study investigated Citrin deficiency in neonates from Henan province, China, screening 986,565 infants to determine its prevalence, clinical features, and genetic variations.
- Nine cases were diagnosed, all showing elevated citrulline levels, with six genetic variants identified, including both known and previously unreported mutations.
- Post-treatment, all patients showed significant clinical improvement and normalizing amino acid profiles, leading to a favorable prognosis by mid-2022.
Article Synopsis
- Duchenne Muscular Dystrophy (DMD) is linked to dystrophin gene mutations, and this study aimed to develop an early screening method for it in Henan Province, where there was no newborn screening (NBS) for DMD previously.
- Researchers measured CK-MM levels in dried blood spots of 13,110 male newborns to establish a cutoff value of 472 ng/mL, discovering 3 cases of DMD with higher CK-MM levels and identifying 4 rare genetic variants associated with the disease.
- The study found a DMD incidence rate of 1:4,370 among male newborns in Henan, highlighting the importance of NBS for early detection and intervention, and offering a
Background: Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a rare inherited metabolic disorder of fatty acid β-oxidation and one of the most common inborn errors of metabolism. The incidence of MCADD varies among regions and ethnic groups. To date, few cases of MCADD have been documented in China.
View Article and Find Full Text PDF[Analysis of GCH1 gene variant in a consanguineous Chinese pedigree affected with tetrahydrobiopterin deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
July 2022
Objective: To explore the genetic basis for a child featuring tetrahydrobiopterin deficiency and global developmental delay.
Methods: Clinical and laboratory examinations were carried out for the child. Genomic DNA of the patient was subjected to high-throughput sequencing to identify genetic variants associated with hyperphenylalaninemia.
Article Synopsis
- Hypermethioninemia is a metabolic disorder caused by a deficiency of methionine adenosyltransferase (MAT), primarily affecting newborns, where elevated plasma methionine levels may lead to severe cognitive issues in a small percentage of patients.
- A study in Henan province screened 9 newborns with hypermethioninemia from over 245,000 and found 10 mutations in the MAT1A gene, including one new variant and confirmed the genetic inheritance patterns.
- These findings contribute to a better understanding of the genetic factors behind hypermethioninemia in Chinese populations, potentially guiding future diagnoses and treatments.
Background: Congenital hypothyroidism (CH), the most common neonatal endocrine disorder worldwide, can be caused by variants in thyroid transcription factor (TTF) genes including NKX2-1, FOXE1, PAX8, NKX2-5 and HHEX. This study aims to perform targeted next-generation sequencing (NGS) panel for comprehensive mutation screening on these genes in a cohort of 606 CH patients with various types from Henan Province, China, to investigate the mutation rate of TTF genes, and to analyze the clinical, biochemical and molecular characteristics of our CH cohort.
Methods: High-throughput sequencing combined with statistical calculation were applied for mutation screening and analyses of the clinical data.
[Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2019
Objective: To study the prevalence, clinical and genetic characteristics of primary carnitine deficiency (PCD).
Methods: From January 2013 to December 2017, 720 667 newborns and their mothers were tested for PCD by tandem mass spectrometry. Potential mutations of carnitine transporter gene SLC22A5 among suspected PCD patients were analyzed.
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
June 2016
Objective: To delineate the mutation spectrum of phenylalanine hydroxylase (PAH) gene among patients affected with phenylalanine hydroxylase deficiency (PAHD) in Henan Province of China, and to explore the correlation between the genotype and the phenotype.
Methods: A total of 155 affected children were recruited. Potential mutation of the PAH gene were analyzed by direct sequencing.