Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia.

ABSTRACT:

Background

OFD1 encodes a protein with 1012 amino acids, which is a component of basal bodies and centrioles, essential for cilia biogenesis. OFD1 was reported to be associated with X-chromosome linked dysmorphology syndrome in early studies and recent studies reported a few cases with primary ciliary dyskinesia (PCD) caused by OFD1 deficiency.

Case presentation

We report a 31-year-old man who suffered from recurrent respiratory infections with typical manifestations of primary ciliary dyskinesia. In addition to respiratory manifestations, the patient also had situs inversus, obesity, gastroesophageal reflux, and hearing impairment. Clubbing fingers and mild streblomicrodactyly were also observed.

Examination result

We performed whole-exome sequen

SUBMITTER: Yang B 

PROVIDER: S-EPMC9285985 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature