Area of research
Sensory Systems · Molecular Biology
Research interest
Research topics from publications: Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China; Mutation analysis of common deafness genes among 1,201 patients with non‐syndromic hearing loss in Shanxi Province; A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease; GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder; A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family; Functional evaluation of a novel GLA causative mutation in Fabry disease; Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree; Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family. Representative work: The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children. Three single nucleotide polymorphisms were detected by sequence analysis. The mutational frequencies of cDNA 696, cDNA 735 and cDNA 1155 in patients were 96.2%, 76.1% and 7.6%, respectively, whereas in healthy children the corresponding frequencies were 97.0%, 77.3% and 8.3%. In addition, 81 mutations accounted for 61.0% of the mutant alleles. R111X, H64 > TfsX9 and S70 del accounted for 5.1%, 0.8% and 0.8% mutation of alleles in exon 3, whereas EX6-96A > G accounted for 10.2% mutation of alleles in exon 6. R243 BACKGROUND: Hearing impairment is one of most frequent birth defects, which affects nearly 1 in every 1,000 live births. However, the molecular etiology of non-syndromic deafness in China is not well studied. Here, we have investigated the presence of mutations in three genes commonly mutated in non-syndromic deafness patients in Shanxi Province, which has the highest frequency of birth defects in China. METHODS: In total, 1,201 unrelated non-syndromic deafness patients and 300 healthy individuals were enrolled. The hearing ability was confirmed by audiologic evaluation. Three major deafness-related genes (GJB2, SLC26A4 (PDS), and mtDNA 12S rRNA) of all individuals enrolled were analyzed by
Genetic and functional analyses detect an <i>EXT1</i> splicing pathogenic variant in a Chinese hereditary multiple exostosis (<scp>HME</scp>) family
A novel splicing pathogenic variant in <i>COL1A1</i> causing osteogenesis imperfecta (OI) type I in a Chinese family
Mutation analysis of common deafness genes among 1,201 patients with non‐syndromic hearing loss in Shanxi Province
A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease
GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder
Functional evaluation of a novel <i>GLA</i> causative mutation in Fabry disease
Identification of a novel compound heterozygous <i>IDUA</i> mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China