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Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.
Am J Med Genet A. 2009 Mar; 149A(3):456-60.AJ

Abstract

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.

Authors+Show Affiliations

Department of Paediatric Neurology, Evelina Children's Hospital, St Thomas' Hospital, London, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19206175

Citation

Dlamini, Nomazulu, et al. "Generalized Arterial Calcification of Infancy: Phenotypic Spectrum Among Three Siblings Including One Case Without Obvious Arterial Calcifications." American Journal of Medical Genetics. Part A, vol. 149A, no. 3, 2009, pp. 456-60.
Dlamini N, Splitt M, Durkan A, et al. Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. Am J Med Genet A. 2009;149A(3):456-60.
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. American Journal of Medical Genetics. Part A, 149A(3), 456-60. https://doi.org/10.1002/ajmg.a.32646
Dlamini N, et al. Generalized Arterial Calcification of Infancy: Phenotypic Spectrum Among Three Siblings Including One Case Without Obvious Arterial Calcifications. Am J Med Genet A. 2009;149A(3):456-60. PubMed PMID: 19206175.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. AU - Dlamini,Nomazulu, AU - Splitt,Miranda, AU - Durkan,Anne, AU - Siddiqui,Ata, AU - Padayachee,Soundrie, AU - Hobbins,Sue, AU - Rutsch,Frank, AU - Wraige,Elizabeth, PY - 2009/2/12/entrez PY - 2009/2/12/pubmed PY - 2009/4/17/medline SP - 456 EP - 60 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 149A IS - 3 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/19206175/Generalized_arterial_calcification_of_infancy:_phenotypic_spectrum_among_three_siblings_including_one_case_without_obvious_arterial_calcifications_ L2 - https://doi.org/10.1002/ajmg.a.32646 DB - PRIME DP - Unbound Medicine ER -