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See Table A. Genes and Databases for chromosome locus and protein.

See Molecular Genetics for information on variants detected in this gene.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

COL1A1 variants p.Arg1014Cys and p.Arg918Cys are the only variants reported to date in individuals with Caffey disease [Gensure et al 2005, Suphapeetiporn et al 2007, Cho et al 2008, Kamoun-Goldrat et al 2008, Ranganath et al 2011, Dhooge et al 2021].

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

To date, no large intragenic deletions/duplications have been reported in individuals with Caffey disease.

One individual with clinical and radiographic features of Caffey disease did not have an identified COL1A1 pathogenic variant [A Guerin, unpublished observation]. Also, one individual with clinical and radiographic features of Caffey disease had a homozygous AHSG pathogenic variant in the context of consanguinity [Merdler-Rabinowicz et al 2019]. To date, there are no additional reports of AHSG-related Caffey disease.