Merdler-Rabinowicz R, et al. - Through a case of an infant male who was born to consanguineous parents and was reported, presenting with classical findings, course, and clinical outcome of infantile cortical hyperostosis (ICH)/Caffey disease (an inflammatory collagenopathy of infancy, exhibited by subperiosteal bone hyperplasia), the researchers assessed the R836C mutation in the COL1A1 gene and AHSG gene in order to determine its role in fetuin-A (an important regulator of bone remodeling and an inhibitor of ectopic mineralization) deficiency which is said to be correlated with ICH. Encoded by the ALPHA-2-HS-GLYCOPROTEIN (AHSG) gene, a novel homozygous nonsense mutation in lysine 2 of fetuin-A was observed. A complete deficiency of fetuin-A protein in the patient’s serum was demonstrated using enzyme-linked immunosorbent assay. Hence, a novel homozygous nonsense mutation in the AHSG gene was discovered in ICH patients with a typical phenotype that results in a fetuin-A deficiency. moreover, this finding proposed an autosomal-recessive mode of inheritance in ICH, which, unlike the autosomal-dominant inheritance affiliated with COL1A1, was correlated with AHSG and fetuin-A deficiency.