Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.

ABSTRACT:

Background

The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness.

Methods

In a retrospective study, clinical data of the proband and her family members, including 8 people and 50 healthy normal controls, were collected. Second-generation sequencing was performed on peripheral blood samples from them.

Results

The sequencing analysis indicated that in the proband, the NOG gene had a c.532T > C, p.C178R (cytosine deletion, NM_005450.6:c.532T > C), leading to an amino acid change. The proband's father, grandmother, second sister, and third sister also had this mutation, whereas family membe

SUBMITTER: Yu R 

PROVIDER: S-EPMC7733265 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature