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Table 1 Summary of Mutations Data for the Study Cohort

From: The natural history of infantile neuroaxonal dystrophy

Family IDPatient IDVariantHomozygousCompound HeterozygousHGMD Reference
F1P1NM_003560.2: c.2370_2371del (p.Tyr790*); c.1506G > C (p.Lys502Asn)NYCM063050; CM063018
F1P2NM_003560.2: c.2370_2371del (p.Tyr790*); c.1506G > C (p.Lys502Asn)NYCM063050; CM063018
F2P3NM_003560.2: c.2370 T > G(p.Y790*); deletion of exon 2NYCM063050; This study
F3P4NM_003560.2: c.1982C > T (p.Thr661Met); c.109C > T (p.Arg37*)NYCM138339; CM063024
F4P5NM_003560.2: c.1613G > A (p.R538H); c.319dupC (p.L107PfsX10)NYCM165308; This study
F5P6NM_003560.2: c.1427 + 1G > A; c.1539del (p.Trp514fs)NYCS090239; This study
F6P7NM_003560.2: c.1613G > A (p.R538H); c.2370 T > G (p.Y790X)NYCM165308; CM063050
F7P8NM_003560.2: c.1903C > T (p.R635X); c.1798C > T (p.R600W)NYCM063025; CM145848
F8P9NM_003560.2: c.404 T > C (p.F135S); deletion of exon 6NYCM063051; This study
F9P10NM_003560.3: c.2370 T > G(p.Y790*); c.1046A > C(p.H349P)NYCM063050; This study
F10P11NM_003560.2: c.1997C > T (p.Thr666Ile)YNThis study
F11P12NM_003560.2: c.2078 T > C (p.Leu693Pro); c.(−46 + 1_-1)_(209 + 1_210–1)NYThis study; This study
F12P13NM_003560.2: c.1771C > T (p.R591W)YNCM090233
F13P14NM_003560.2: c.1125delA (p.Val376Trpfs*14)YNCD1310226
F14P15NM_003560.2: c.1911delC (p.Ser637Argfs*29)YNCD1310227
F14P16NM_003560.2: c.1911delC (p.Ser637Argfs*29)YNCD1310227
F15P17NM_003560.2: c.2218G > A (p.G740R)YNCM1310225
F16P18NM_003560.2: c.2070_2072delTGT (p.Val691del)YNCD063595
F17P19NM_003560.2: c.1772G > A (p.R591Q)YNCM063032
F18P20NM_003560.2: c.2251G > A (p.E751K)YNCM063028
F19P21NM_003560.2: c.2070_2072delTGT (p.Val691del)YNCD063595
F20P22NM_003560.2 c.1933C > T (p.R645*)YNCM121238
F15P23NM_003560.2: c.2218G > A (p.G740R)YNCM1310225
F19P24NM_003560.2: c.2070_2072delTGT (p.Val691del)YNCD063595
F21P25NM_003560.2: c.1933C > T (p.R645*)YNCM121238
F22P26NM_003560.2: c.1125delA (p.Val376Trpfs*14)YNCD1310226
F23P27NM_003560.2: c.1933C > T (p.R645*)YNCM121238
F19P28NM_003560.2: c.2070_2072delTGT (p.Val691del)YNCD063595
  1. Abbreviations: N no, Y yes, HGMD human gene mutation database