Deleterious mutations of this gene cause normophosphatemic familial tumoral calcinosis (NFTC).[4] On the other hand, mutations that increase the activity of SAMD9 cause myelodysplasia, infection, restriction of growth, adrenal hypoplasia (small adrenal glands with diminished function), genitalphenotypes, and enteropathy (MIRAGE) syndrome.[5] This can lead to loss of chromosome 7 as described for monosomy 7 and myelodysplastic syndrome and leukemia syndrome-2 (M7MLS2).[6] Loss of chromosome 7/7q may be an adaptation to a growth restriction inherent in SAMD9/9L mutant cells.[7]
^Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, et al. (July 2016). "SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7". Nature Genetics. 48 (7): 792–7. doi:10.1038/ng.3569. PMID27182967. S2CID13270706.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Dereure O (May 2007). "[SAMD9 mutation in normophosphatemic familial tumoral calcinosis]". Annales de Dermatologie et de Vénéréologie. 134 (5 Pt 1): 505. doi:10.1016/S0151-9638(07)89230-1. PMID17507861.
