How to cite this article: Dlamini N, Splitt M, Durkan A, Siddiqui A, Padayachee S, Hobbins S, Rutsch F, Wraige E. 2009. Generalized arterial calcification of infancy: Phenotypic spectrum among three siblings including one case without obvious arterial calcifications. Am J Med Genet Part A 149A:456–460.
Version of Record online: 10 FEB 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 3, pages 456–460, March 2009
How to Cite
Dlamini, N., Splitt, M., Durkan, A., Siddiqui, A., Padayachee, S., Hobbins, S., Rutsch, F. and Wraige, E. (2009), Generalized arterial calcification of infancy: Phenotypic spectrum among three siblings including one case without obvious arterial calcifications. Am. J. Med. Genet., 149A: 456–460. doi: 10.1002/ajmg.a.32646
Frank Rutsch and Elizabeth Wraige contributed equally to this work.
- Issue online: 24 FEB 2009
- Version of Record online: 10 FEB 2009
- Manuscript Accepted: 3 OCT 2008
- Manuscript Received: 9 MAY 2008
- Deutsche Forschungsgemeinschaft. Grant Numbers: SFB 492, TP A12
- generalized arterial calcification of infancy;
- intracranial arterial calcification
Generalized arterial calcification of infancy (GACI) (OMIM no. 208000) is characterized by calcification of the major arteries and soft tissues and associated with mutations in the ENPP1 gene. Most affected patients die within the first 6 months of life although prolonged survival is increasingly recognized. We report on three siblings with GACI and striking phenotypic variability. Two siblings (including the sibling survivor) were compound heterozygotes for mutations in exon 7 (c.783C>G (p.Y261X)) and exon 8 (c. 878_879delAA (p.K293fsX5)) of the ENPP1 gene confirming the diagnosis of GACI. The sibling survivor did not have calcification on X-ray studies or evidence of hypophosphatemic rickets. GACI may be under recognized and we emphasize consideration of this condition in patients with multiple arterial stenosis even in the absence of radiographic calcification. This adds to the expanding phenotype of GACI and supports a potential role for modifying genes. © 2009 Wiley-Liss, Inc.