Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1A): A nationwide multi-centre retrospective cross-sectional study
Authors' conclusion
The most common four mutations accounted for the underlying aetiology of VDDR1A in approximately 81% of the cohort, indicating Turkey may serve as a mutational hotspot or exhibit a founder effect for these variants. Our large cohort's results suggested no clear and clinically meaningful phenotype-genotype relationship in VDDR1A.
Study context
- Population
- Children with vitamin D-dependent rickets type IA (VDDR1A) from Turkey57 F, 61 M
- Participants
- 118 children
- Outcome
- Clinical presentation and mutation spectrum
Methodological detailsmulticentre, nationwide, web-based research network (CEDD-NET)
- Multicentre
- Nationwide
- Web-based research network (CEDD-NET)
Main finding
As reported in the abstract
- Median age at diagnosis
- 1.7 years (0.2-18.3 years)
- Presenting complaint: skeletal deformity
- n = 61
- Presenting complaint: short stature
- n = 45
- Presenting complaint: delay in walking
- n = 42
- Splice-donor-site mutation c.195+2T>G (most common)
- n = 42
- 7-bp duplication 1319-1325dupCCCACCC (Phe443Profs*24)
- n = 25
- Missense p.K192E (c.574A>G)
- n = 17
- Missense c.1474C>T (p.R492W)
- n = 12
Observational data: associations, not effects.
Original publication
Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1A): A nationwide multi-centre retrospective cross-sectional study. Horm Res Paediatr. Published 2 July 2025. doi:10.
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