CCDC149 : a novel gene associated with hypopituitarism and neurodevelopmental impairment
Authors' conclusion
Our study is the first to report CCDC149 variants in association with CH.
Study context
- Population
- Congenital hypopituitarism patients with no known genetic aetiology2 pedigrees · 3 patients
- Outcome
- CCDC149 variants and phenotypes
Methodological detailsnext generation sequencing, human embryonic expression profiling, CRISPR-Cas9 knock-out mouse model
- Next generation sequencing
- Human embryonic expression profiling
- CRISPR-Cas9 knock-out mouse model
Main finding
As reported in the abstract
- Two novel homozygous CCDC149 frameshifts (p.Gly278*, p.Leu222*) identified in two unrelated Congenital Hypopituitarism (CH) pedigrees (three patients)
- Patient phenotypes: Growth hormone deficiency (GHD), hypogonadotropic hypogonadism, developmental delay/autism
- Severe scoliosis in one pedigree; small anterior pituitary on MRI in the other
- Human embryonic CCDC149 localized to developing hypothalamo-pituitary region at Carnegie stages 16-23
- Ccdc149-null mice recapitulated patient phenotypes, incl. growth impairment and reduced fertility vs wild-type littermates
Original publication
CCDC149 : a novel gene associated with hypopituitarism and neurodevelopmental impairment. Eur J Endocrinol. Published 5 August 2026. doi:10.
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