Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

Journal of Applied Genetics

Volumn 58, Issue 3, 2017, Pages 349-353

  Pronicka, Ewa ^a   Ciara, Elżbieta ^a   Halat, Paulina ^a   Janiec, Agnieszka ^a   Wójcik, Marek ^a   Rowińska, Elżbieta ^a   Rokicki, Dariusz ^a   Płudowski, Paweł ^a   Wojciechowska, Ewa ^a   Wierzbicka, Aldona ^a   Książyk, Janusz B ^a   Jacoszek, Agnieszka ^b,c   Konrad, Martin ^d   Schlingmann, Karl P ^d   Litwin, Mieczysław ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c POSTGRADUATE SCHOOL OF MOLECULAR MEDICINE   (Poland)

^d UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Adults; Biallelic mutations; CYP24A1; Idiopathic infantile hypercalcemia; SLC34A1; Vitamin D hypersensitivity

Indexed keywords

COLECALCIFEROL 24 HYDROXYLASE; SODIUM PHOSPHATE COTRANSPORTER 2A; VITAMIN D; CYP24A1 PROTEIN, HUMAN; SLC34A1 PROTEIN, HUMAN;

ADULT; ARTICLE; BODY MASS; CLINICAL ARTICLE; CREATININE BLOOD LEVEL; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; HYPERCALCEMIA; HYPERSENSITIVITY; KIDNEY CALCIFICATION; MALE; METABOLIC DISORDER; MUTATION; PSYCHOMOTOR DEVELOPMENT; RICKETS; DNA MUTATIONAL ANALYSIS; GENETICS; HETEROZYGOTE; HOMOZYGOTE; POLAND; YOUNG ADULT;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERCALCEMIA; MALE; MUTATION; NEPHROCALCINOSIS; POLAND; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIA; VITAMIN D; VITAMIN D3 24-HYDROXYLASE; YOUNG ADULT;

EID: 85018994431     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-017-0397-2     Document Type: Article

References (12)

1. Ciara E, Rokicki D, Halat P, Karkucinska-Wieckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymanska-Debinska T, Pronicki M, Pajdowska M, Dudzinska M, Gizewska M, Krajewska-Walasek M, Ksiazyk J, Sperl W, Ploski R, Pronicka E (2016) Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. Mol Genet Metab Rep 7:70–76
2. Misselwitz J, Hesse V, Markestad T (1990) Nephrocalcinosis, hypercalciuria and elevated serum levels of 1,25-dihydroxyvitamin D in children. Possible link to vitamin D toxicity. Acta Paediatr Scand 796-7:637–643
3. Molin A, Baudoin R, Kaufmann M, Souberbielle JC, Ryckewaert A, Vantyghem MC, Eckart P, Bacchetta J, Deschenes G, Kesler-Roussey G, Coudray N, Richard N, Wraich M, Bonafiglia Q, Tiulpakov A, Jones G, Kottler ML (2015) Mutations in a cohort of hypercalcemic patients: evidence for a recessive trait. J Clin Endocrinol Metab 100(10):E1343–E1352
4. Pronicka E, Kulczycka H, Rowinska E, Konopinska A, Kansy J, Lorenc R (1985) Idiopathic hypercalcemia as a syndrome of hypersensitivity to vitamin D3 in 19 infants. Pediatr Pol 604:288–294
5. Pronicka E, Kulczycka H, Lorenc R, Proszynska K, Gradzka J, Rowinska E (1988) Increased serum level of 1,25-dihydroxyvitamin D3 after parathyroid hormone in the normocalcemic phase of idiopathic hypercalcemia. J Pediatr 1126:930–933
6. Pronicka E, Rowinska E, Kulczycka H, Lukaszkiewicz J, Lorenc R, Janas R (1997) Persistent hypercalciuria and elevated 25-hydroxyvitamin D3 in children with infantile hypercalcaemia. Pediatr Nephrol 111:2–6
7. Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP (2011) Integrative genomics viewer. Nat Biotechnol 291:24–26
8. Rowińska E, Lukaszkiewicz J, Gradowska W, Lyson-Wojciechowska G, Proszynska K, Konopielko Z, Kulczycka H, Lorenc R, Pronicka E (1998) Abnormalities of calcium-phosphate metabolism in children with a past history of idiopathic infantile hypercalcemia. Ped Pol 73:23–30
9. Samuel HS (1964) Infantile Hypercalcaemia, nutritional rickets, and infantile scurvy in great Britain. A British Paediatric Association Report. Br Med J 15399:1659–1661
10. Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Broking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M (2011) Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med 3655:410–421
11. Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M (2016) Autosomal-recessive mutations in SLC34A1 encoding sodium-phosphate cotransporter 2A cause idiopathic infantile hypercalcemia. J Am Soc Nephrol 272:604–614
12. Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 3816:e164