A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA.

Journal of Feline Medicine and Surgery
Robert A GrahnLeslie A Lyons

Abstract

A 12-week-old domestic cat presented at a local veterinary clinic with hypocalcemia and skeletal abnormalities suggestive of rickets. Osteomalacia (rickets) is a disease caused by impaired bone mineralization leading to an increased prevalence of fractures and deformity. Described in a variety of species, rickets is most commonly caused by vitamin D or calcium deficiencies owing to both environmental and or genetic abnormalities. Vitamin D-dependent rickets type 1A (VDDR-1A) is a result of the enzymatic pathway defect caused by mutations in the 25-hydroxyvitamin D(3)-1-alpha-hydroxylase gene [cytochrome P27 B1 (CYP27B1)]. Calcitriol, the active form of vitamin D(3), regulates calcium homeostasis, which requires sufficient dietary calcium availability and correct hormonal function for proper bone growth and maintenance. Patient calcitriol concentrations were low while calcidiol levels were normal suggestive of VDDR-1A. The entire DNA coding sequencing of CYP27B1 was evaluated. The affected cat was wild type for previously identified VDDR-1A causative mutations. However, six novel mutations were identified, one of which was a nonsense mutation at G637T in exon 4. The exon 4 G637T nonsense mutation results in a premature protein t...Continue Reading

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Citations

Nov 1, 2012·BMC Veterinary Research·Robert A GrahnLeslie A Lyons
May 2, 2012·Molecular and Cellular Probes·Leslie A Lyons
Feb 24, 2015·Journal of Feline Medicine and Surgery·Leslie A Lyons
Apr 22, 2015·Journal of Feline Medicine and Surgery·Barbara Gandolfi, Hasan Alhaddad
Sep 19, 2020·Metabolites·Emma A HurstRichard J Mellanby
Apr 2, 2020·JFMS Open Reports·Florent Duplan, Christina Maunder
Feb 20, 2019·BMC Veterinary Research·Takahiro TeshimaHidekazu Koyama
Dec 9, 2020·Metabolites·Rafael Vessecchi Amorim ZafalonMarcio Antonio Brunetto
Jul 30, 2021·The Journal of Small Animal Practice·K E ClarkeR J Mellanby

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Methods Mentioned

BETA
electrophoresis
PCR

Software Mentioned

Sequencher
Ensemble

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