In 2022, loss-of-function mutations of the CAPRIN1 gene were shown to result in an autosomal-dominant disorder. Patients having the newly-discovered disorder suffer from language impairment, speech delay, intellectual disability, ADHD and autism spectrum disorder.[12] Somatically, they have respiratory problems, limb/skeletal anomalies, developmental delay, feeding difficulties, seizures and ophthalmologic problems.
^Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PY, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A (July 2022). "CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD". Brain: A Journal of Neurology. 146 (2): 534–548. doi:10.1093/brain/awac278. PMC10169411. PMID35979925.
Further reading
Gessler M, Klamt B, Tsaoussidou S, Ellis JA, Luzio JP (February 1996). "The gene encoding the GPI-anchored membrane protein p137GPI (M11S1) maps to human chromosome 11p13 and is highly conserved in the mouse". Genomics. 32 (1): 169–70. doi:10.1006/geno.1996.0099. PMID8786113.
