Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease).
| Title: | Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease). |
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| Authors: | Merdler-Rabinowicz R; Pediatric Department A and the Immunology Services, 'Edmond and Lily Safra' Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, affiliated to Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Grinberg A; Pediatric Department A and the Immunology Services, 'Edmond and Lily Safra' Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, affiliated to Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Jacobson JM; Pediatric Radiology Department, 'Edmond and Lily Safra' Children's Hospital, Tel Hashomer, Israel.; Somekh I; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University, Munich, Germany.; Klein C; Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University, Munich, Germany.; Lev A; Pediatric Department A and the Immunology Services, 'Edmond and Lily Safra' Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, affiliated to Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ihsan S; General Health Services, Tel Hashomer, Israel.; Habib A; Saint Vincent De Paul French Hospital, Nazareth, affiliated to the Azrieli Faculty of Medicine, Bar-Ilan University, Ramat Gan, Israel.; Somech R; Pediatric Department A and the Immunology Services, 'Edmond and Lily Safra' Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, affiliated to Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Simon AJ; Pediatric Department A and the Immunology Services, 'Edmond and Lily Safra' Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, affiliated to Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. amos.simon@sheba.health.gov.il.; Sheba Cancer Research Center and Institute of Hematology, Sheba Medical Center, Tel Hashomer, Israel. amos.simon@sheba.health.gov.il. |
| Source: | Pediatric research [Pediatr Res] 2019 Nov; Vol. 86 (5), pp. 603-607. Date of Electronic Publication: 2019 Jul 09. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Language: | English |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2012- : New York : Nature Publishing Group; Original Publication: Basel ; New York : Karger. |
| MeSH Terms: | Deficiency Diseases/*complications ; Hyperostosis, Cortical, Congenital/*complications ; alpha-2-HS-Glycoprotein/*deficiency; Hyperostosis, Cortical, Congenital/genetics ; alpha-2-HS-Glycoprotein/genetics ; Humans ; Infant ; Male ; Exome Sequencing |
| Abstract: | Background: Infantile cortical hyperostosis (ICH)/Caffey disease is an inflammatory collagenopathy of infancy, manifested by subperiosteal bone hyperplasia. Genetically, ICH was linked with heterozygosity for an R836C mutation in the COL1A1 gene. Although an autosomal-recessive trait is also suspected, it has not been proven thus far.; Methods: A case of an infant male born to consanguineous parents is reported, presenting with classical findings, course, and clinical outcome of ICH. Whole-exome sequencing (WES) was performed in order to identify a possible underlying genetic defect.; Results: WES analysis revealed a novel homozygous nonsense mutation in lysine 2 of fetuin-A, encoded by the ALPHA-2-HS-GLYCOPROTEIN (AHSG) gene (c.A4T; p.K2X). Fetuin-A is an important regulator of bone remodeling and an inhibitor of ectopic mineralization. By enzyme-linked immunosorbent assay (ELISA), we show a complete deficiency of this protein in the patient's serum, compared to controls.; Conclusion: A novel homozygous nonsense mutation in AHSG gene has been found in ICH patient with a typical phenotype, resulting in fetuin-A deficiency. This finding postulates an autosomal-recessive mode of inheritance in ICH, which, unlike the autosomal-dominant inheritance associated with COL1A1, is associated with AHSG and fetuin-A deficiency. |
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| Substance Nomenclature: | 0 (AHSG protein, human); 0 (alpha-2-HS-Glycoprotein) |
| Entry Date(s): | Date Created: 20190710 Date Completed: 20200921 Latest Revision: 20221207 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC7086575 |
| DOI: | 10.1038/s41390-019-0499-0 |
| PMID: | 31288248 |
| Database: | MEDLINE |
Case Reports; Journal Article; Research Support, Non-U.S. Gov't