First Australian report of vitamin D-dependent rickets type I

Nobuaki Ito, Alexia S Peña, Shiree Perano, Gerald J Atkins, David M Findlay and Jennifer J Couper
Med J Aust 2014; 201 (7): 420-421. || doi: 10.5694/mja13.00220

A 20-month-old girl presented to hospital with features of rickets. Results of investigations were consistent with vitamin D-dependent rickets type I (VDDR-I), and DNA sequence analysis showed a homozygous mutation in the CYP27B1 gene of c.1325-1326insCCCACCC. This is the first reported Australian case of VDDR-I.

A 20-month-old white Australian girl presented to the Women's and Children's Hospital in Adelaide, South Australia, with a 6-month history of developmental regression of gross motor skills, failure to thrive and irritability, in particular distress when “she was wearing her shoes”. At 14 months of age, she had been crawling, pulling to stand and cruising, but at presentation her gross motor skills had regressed to only being able to sit unsupported. Other developmental milestones continued to progress normally for her age. Her weight at presentation was 7.7 kg, having dropped from the 50th centile to below the third centile (weight loss of 3.7 kg over 6 months). Length and head circumference had dropped from the 25th centile to less than the first centile and to the third centile, respectively, over this time.

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  • Nobuaki Ito1
  • Alexia S Peña2,3
  • Shiree Perano3
  • Gerald J Atkins1
  • David M Findlay1
  • Jennifer J Couper2,3

  • 1 Centre for Orthopaedic and Trauma Research, University of Adelaide, Adelaide, SA.
  • 2 Discipline of Paediatrics, University of Adelaide and Robinson Research Institute, Adelaide, SA.
  • 3 Endocrinology and Diabetes Centre, Women's and Children's Hospital, Adelaide, SA.


This genetic work was supported by funding from the National Health and Medical Research Council Project Grants scheme.

Competing interests:

No relevant disclosures.

  • 1. Alzahrani AS, Zou M, Baitei EY, et al. A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1. J Clin Endocrinol Metab 2010; 95: 4176-4183.
  • 2. Fukumoto S, Yamashita T. FGF23 is a hormone-regulating phosphate metabolism--unique biological characteristics of FGF23. Bone 2007; 40: 1190-1195.
  • 3. Yoshida T, Monkawa T, Tenenhouse HS, et al. Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type 1. Kidney Int 1998; 54: 1437-1443.
  • 4. Wang JT, Lin CJ, Burridge SM, et al. Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. Am J Hum Genet 1998; 63: 1694-1702.
  • 5. Smith SJ, Rucka AK, Berry JL, et al. Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. J Bone Miner Res 1999; 14: 730-739.
  • 6. Kitanaka S, Murayama A, Sakaki T, et al. No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. J Clin Endocrinol Metab 1999; 84: 4111-4117.
  • 7. Porcu L, Meloni A, Casula L, et al. A novel splicing defect (IVS6+1G>T) in a patient with pseudovitamin D deficiency rickets. J Endocrinol Invest 2002; 25: 557-560.
  • 8. Wang X, Zhang MY, Miller WL, et al. Novel gene mutations in patients with 1alpha- hydroxylase deficiency that confer partial enzyme activity in vitro. J Clin Endocrinol Metab 2002; 87: 2424-2430.
  • 9. Kim CJ, Kaplan LE, Perwad F, et al. Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. J Clin Endocrinol Metab 2007; 92: 3177-3182.
  • 10. Durmaz E, Zou M, Al-Rijjal RA, et al. Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A. Clin Endocrinol (Oxf) 2012; 77: 363-369.


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