Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.

ABSTRACT:

Objective

To evaluate the ophthalmic phenotypes associated with T-cell immune regulator 1 (TCIRG1) mutations in Chinese patients with infantile malignant osteopetrosis (IMO).

Methods and analysis

27 Chinese TCIRG1-related osteoporosis infants were enrolled using direct DNA sequencing of PCR-amplified exons. 12 cases had frameshift mutation (the frameshift mutation group, group F), and 15 cases had point mutation (the point mutation group, group P). The clinical features of the two groups were compared, including age at onset, gaze qualities, optic atrophy, optic canal stenosis and waveforms of Flash visual-evoked potential (FVEP).

Results

The clinical signs, except age at onset and FVEP, showed statistically significant differences between the two groups. The mean age

SUBMITTER: Cao W 

PROVIDER: S-EPMC6257380 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature