“…Several groups have reported patients harboring FGFR1 variants linked to non-reproductive signs. Patients with FGFR1 mutations have been reported to suffer from health conditions such as 8p11 myeloproliferative syndrome ( 107 , 108 ), encephalocraniocutaneous lipomatosis ( 109 , 110 ), Hartsfield syndrome, a rare condition characterized by holoprosencephaly, which is an abnormality of brain development ( 111 , 112 ), osteoglophonic dysplasia, a condition characterized by abnormal bone growth that leads to craniofacial abnormalities and dwarfism ( 113 , 114 ) and Pfeiffer syndrome, which is characterized by craniosynostosis ( 115 , 116 ). Somatic pathogenic variants involving the FGFR1 gene have also been reported in several types of cancers, including the lung, breast, esophagous, oral cavity and brain tumors ( 101 , 117 – 119 ).…”