Genetic analysis of PAX3 gene in a Waardenburg syndrome family
QU Chunyan
ZHAO Min
LI Jun
WEI Wei
LI Xiaoze
LIANG Fenghe
Abstract：Objective To report clinical features and genetic mutations in a family with Waardenburg syndrome type I. Methods Clinical data of a family with Waardenburg syndrome were collected and the open reading frame of gene PAX3 was sequenced in five family members. Results The proband newborn and his mother showed typical clinical features of Waardenburg syndrome type I: bilateral congenital sensorineural deafness, heterochromia iridis, dystopia canthorum and broadening of nasal root. Both of them were found to carry heterozygous mutation ivs5-1G>A in the PAX3 gene, while the father and maternal grandparents were tested negative. Conclusion A novel PAX3 gene mutation has been found in a family with Waardenburg syndrome. Genetic diagnosis is an important means for diagnosis of subtypes of Waardenburg syndrome.
Keywords：Waardenburg syndromePAX3MutationGenetic diagnosis
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 480-483 )