Primary ciliary disorders

Gene: SPEF2

I don't know

4 families reported with bi-allelic variants and sperm morphological abnormalities plus recurrent sinopulmonary infections and bronchiectasis, consistent with a PCD-like phenotype. Morphological abnormalities of the respiratory cilia were not observed. Mouse model recapitulated the infertility phenotype but also had hydrocephalus and sinusitis, again arguing for broader impact on ciliary function. Note other reports of individuals with bi-allelic variants and no respiratory phenotype reported. Given respiratory phenotype is milder and currently it is unclear in what proportion of individuals it is present, Amber rating suggested.
Sources: Literature

Created: 23 Apr 2020, 3:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype

Publications

• 31151990
• 31278745
• 31048344
• 31942643