“…Several novel mutations in known myopia genes were identified this way: CCDC111 ,109 NDUFAF7 ,110 P4HA2 ,108 SCO2 ,112 UNC5D ,111 BSG ,113 ARR3 ,114 LOXL3 ,115 SLC39A5 ,116 LRPAP1 ,117 CTSH ,117 ZNF644 118,119. Although most genetic variants displayed an autosomal dominant hereditary pattern,108,112,118,119 X-linked heterozygous mutations were identified in ARR3 , only in female family members 114. The functions of these novel genes include DNA transcription ( CCDC111 , ZNF644 ), mitochondrial function ( NDUFAF7 , SCO2) , collagen synthesis ( P4HA2 ), cell signaling ( UNC5D , BSG ), retina-specific signal transduction ( ARR3 ), TGF-beta pathway ( LOXL3 , SLC39A5 , LRPAP1 ), and degradation of proteins in lysosomes ( CTSH ).…”