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A novel splicing defect (IVS6+1G>T) in a patient with pseudovitamin D deficiency rickets
1Biomedical and Biotechnological Sciences Department, Cagliari University, Italy.
Insights
Hereditary pseudovitamin D deficiency rickets (PDDR) in a child was linked to mutations in the 25OHD3 1alpha-hydroxylase gene. Genetic analysis identified novel mutations, offering insights into this rare condition.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Hereditary pseudovitamin D deficiency rickets (PDDR) is a rare autosomal recessive disorder.
- It is characterized by severe rickets in infancy and early childhood.
- PDDR results from mutations in the CYP2R1 gene, encoding the 25-hydroxyvitamin D 1alpha-hydroxylase enzyme.
Observation:
- A 15-month-old boy presented with severe rickets.
- Clinical diagnosis suggested hereditary pseudovitamin D deficiency rickets (PDDR).
Findings:
- Molecular analysis was performed to investigate mutations in the 25OHD3 1alpha-hydroxylase gene.
- A double heterozygous state was identified.
- A novel splicing mutation in the donor site of IVS6 and a 7-nucleotide insertion in exon 8 were discovered.
- The exon 8 insertion is noted to be common across different ethnic backgrounds.
Implications:
- These findings contribute to understanding the genetic basis of PDDR.
- Identification of novel mutations expands the known mutation spectrum for this disorder.
- This genetic information can aid in accurate diagnosis and genetic counseling for families affected by PDDR.
Abstract:
A 15-month-old boy with severe rickets, that by clinical analysis was diagnosed as affected by hereditary pseudovitamin D deficiency rickets (PDDR), was evaluated for mutations in the 25OHD3 1alpha-hydroxylase gene. Molecular analysis showed a double heterozygous state for a novel splicing mutation in the invariant dinucleotide of the donor site of IVS6 and a 7 nucleotide insertion in the exon 8, which is common in different ethnical backgrounds.