ArticlePloS one2015
Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 50 citations in OpenAlex.
- Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.Journal of the Endocrine Society · 2026Article
- Vitamin D and Mineral Ion Regulation.Advances in experimental medicine and biology · 2026Review
- Impact of the CYP27B1 p.R389H mutation on protein stability and function: implications for multiple sclerosis pathogenesis.Scientific reports · 2025Article
- Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes.Turkish archives of pediatrics · 2025Article
- Relationship between vitamin D deficiency, vitamin D receptor gene variants, & the risk of coronary artery disease among South Indians: A case-control study.The Indian journal of medical research · 2025Article
- A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges.Hormones (Athens, Greece) · 2024Article
- Hereditary Rickets: A Quick Guide for the Pediatrician.Current pediatric reviews · 2024Review
- Review
- An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature.Clinical case reports · 2023Article
- Lifelong deformities in an adult caused by vitamin D‑dependent rickets type 1A: A case report.Experimental and therapeutic medicine · 2022Article
- Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.Frontiers in pediatrics · 2022Article
- Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.Frontiers in endocrinology · 2022Article
- Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.Frontiers in endocrinology · 2022Article
- Use of RNA‑sequencing to detect abnormal transcription of the collagen α‑2 (VI) chain gene that can lead to Bethlem myopathy.International journal of molecular medicine · 2021Article
- Review
- Molecular Analysis ofFrontiers in genetics · 2020Article
- Role of cytochrome P450 polymorphisms and functions in development of ulcerative colitis.World journal of gastroenterology · 2019Review
- Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1AJournal of clinical research in pediatric endocrinology · 2019Article
- Genetic Causes of Rickets.Journal of clinical research in pediatric endocrinology · 2017Review
- A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.Journal of clinical research in pediatric endocrinology · 2016Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. To investigate CYP27B1 mutations, we studied 8 patients from 7 unrelated families. All coding exons and intron-exon boundaries of CYP27B1 gene were amplified by PCR from peripheral leukocyte DNA and subsequently sequenced. Homozygous mutations in the CYP27B1 gene were found in all the patients and heterozygous mutations were present in their normal parents. One novel single nucleotide variation (SNV, c.1215 T>C, p.R379R in the last nucleotide of exon 7) and three novel mutations were identified:, a splice donor site mutation (c.1215+2T>A) in intron 7, a 16-bp deletion in exon 6 (c.1022-1037del16), and a 2-bp deletion in exon 5 (c.934_935delAC). Both c.1215 T>C and c.1215+2T>A were present together in homozygous form in two unrelated patients, and caused exon 7 skipping. However, c.1215 T>C alone has no effect on pre-mRNA splicing. The skipping of exon 7 resulted in a shift of downstream reading frame and a premature stop codon 57 amino acids from L380 (p.L380Afs*57). The intra-exon deletions of c.1022-1037del16 and c.934_935delAC also resulted in a frameshift and the creation of premature stop codons at p.T341Rfs*5, and p.T312Rfs*19, respectively, leading to the functional inactivation of the CYP27B1 gene. Clinically, all the patients required continued calcitriol treatment and the clinical presentations were consistent with the complete loss of vitamin D1α-hydroxylase activity. In conclusion, three novel mutations have been identified. All of them caused frameshift and truncated proteins. The silent c.1215 T>C SNV has no effect on pre-mRNA splicing and it is likely a novel SNP. The current study further expands the CYP27B1 mutation spectrum.
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