Publications by authors named "Chu Feng He"

Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited syndrome with auditory-pigmentary abnormalities, which is clinically and genetically heterogeneous. Haploinsufficiency may be the underlying mechanism for WS2. However, the mechanisms explaining the genotypic and phenotypic variations in WS2 caused by MITF mutations are unclear.

View Article and Find Full Text PDF

Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms.

View Article and Find Full Text PDF

Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes.

View Article and Find Full Text PDF

Hearing impairment, or deafness (in its most severe form), is one of the most common human sensory disorders. There have been several reports of autosomal dominant mutations in the POU4F3 gene, which is associated with non-syndromic hearing loss. In this study, we identified a novel heterozygous mutation (c.

View Article and Find Full Text PDF
Article Synopsis
  • * A case study of a Chinese patient revealed a new mutation, c.1063C>T (p.Q355*), in the SOX10 gene, which was not present in unaffected family members or 100 unrelated individuals.
  • * Although both the normal and mutant SOX10 proteins were found in the cell nucleus and had similar expression levels, the mutant form acted as a dominant-negative repressor, hindering the normal function of the wild-type SOX10 protein related to
View Article and Find Full Text PDF

Objective: To explore interaction proteins affect functions of connexin 30 (Cx30) by screening and identification interaction proteins of Cx30.

Methods: The fusion expression vecto of CX30-C-terminal functional domain-pGEX-4T-2-GST was constructed, and then, fusion protein and GST were purified. They were incubated with the proteins of the foetus brain tissue disruption to pull down interaction proteins.

View Article and Find Full Text PDF

Objective: To make a further exploration of the mutation frequence of Chinese genetic deafness and make clear if the genetic deafness genealogy that we collected recently was resulted from the mutation of the deafness genes which had been cloned.

Method: We made regular otologic examination, hearing test and physical examination among the members of this genealogy, and also inspected the mutation of seven autosomal domiant deafness genes, HDIAI,GJB2, GJB3, DFNA5, a-tectorin(resulting in two types of genetic deafness, DFNA8 and DFNA12), MYO7A,POU4F3, with PCR-Sequencing method in this genealogy.

Result: 1.

View Article and Find Full Text PDF