{Reference Type}: Case Reports
{Title}: [A case report of congenital sensorineural deafness caused by novel mutation in Usher1C and related literature analysis].
{Author}: Guo M;Han W;Li S;
{Journal}: Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
{Volume}: 34
{Issue}: 6
{Year}: Jun 2020
暂无{DOI}: 10.13201/j.issn.2096-7993.2020.06.019
{Abstract}:  To study the clinical features and causes of congenital Usher hearing loss in one child. Clinical examination, audiological tests, visual acuity examination were conducted in the proband and its family members, and second-generation sequencing technology for deafness gene detection was employed. The proband exhibited profound sensorineural deafness（hearing threshold>90 dB nHL）. There was no visual loss after follow-up. Other family members had no history of hearing loss. The gene test indicated that the proband had a frameshift mutation for the thymine（T） deletion at the 1527 site of the Usher1C gene. The mutation was a homozygous mutation, and was from the father and the mother, respectively, which caused the truncation of the encoded protein. Normal function, Usher syndrome or non-syndromic deafness DFNB18 can occur. This is the first case in China demonstrating congenital deafness due to homozygous mutation of Usher1C gene c. 1527delT. This study enriches the gene spectrum of deafness in China.