Table 1.
(a) List of mutations in EXT1 in MO patients (HPO id 0002762). (b) List of mutations in EXT2 in MO patients (HPO id 0002762)
| Family number⊤ | Exon–intron | DNA | Deduced protein change | Mutation type | Publication |
|---|---|---|---|---|---|
| (a) | |||||
| P01 | Exon 1 | c.9insA | p.Lys6Thrfs*29 | Frameshift | This study |
| P02 | Exon 1 | c.125delG | p.Gly42Valfs*93 | Frameshift | This study |
| P03 | Exon 1 | c.173_174insG | p.Phe58Leufs*72 | Frameshift | This study |
| c.186_192delCGCCC | |||||
| P05,P06, P07 | Exon 1 | c.651_672del22 | p.Lys218Alafs*27 | Frameshift | This study |
| P08 | Exon 1 | c.859delC | p.His287Ilefs* | Frameshift | This study |
| P10 | Exon 1 | c.774_775delCT | p.Pro258Profs*29 | Frameshift | This study |
| P20, P21, F8, F24 | Exon 6 | c.1469delT | p.Leu490Argfs*9 | Frameshift | Signori et al. (2007) |
| P22, P23 | Exon 6 | c.1468_1469insC | p.Leu490Profs*31 | Frameshift | Signori et al. (2007) |
| P25 | Exon 8 | c.1642delA | p.Ser548Alafs*73 | Frameshift | Lonie et al. (2006) |
| F21 | Exon 8 | c.1680_1682insGC | p.Val561Profs*16 | Frameshift | This study |
| P26 | Exon 8 | c.1718_1719delCA | p.Thr573Argfs*53 | Frameshift | This study |
| F14 | Exon 10 | c.2040_2041delGA | p.Thr681Aspfs*? | Frameshift | This study |
| P27 | Exon 10 | c.2001delG | p.Leu667Phefs*5 | Frameshift | This study |
| F22 | Exon 10 | c.1896_1898delCCT | p.Tyr632* | Nonsense | This study |
| F12 | Exon 1 | c.289A>T | p.Lys97* | Nonsense | This study |
| P04 | Exon 1 | c.385G>T | p.Glu129* | Nonsense | This study |
| F15, P16 | Exon 4 | c.1236G>A | p.Trp412* | Nonsense | This study |
| P18 | Exon 5 | c.1320insT | p.Asp441* | Nonsense | Gigante et al. (2001) |
| P19 | Exon 5 | c.1335G>A | p.Trp445* | Nonsense | This study |
| F17 | Exon 6 | c.1522C>T | p.Gln508* | Nonsense | Pedrini, not published |
| F7 | Exon 7 | c.1550G>A | p.Trp517* | Nonsense | Jennes, not published |
| P24 | Exon 8 | c.1696G>T | p.Glu566* | Nonsense | Vink et al. (2005) |
| F23 | Exon 10 | c.1911C>G | p.Tyr637* | Nonsense | This study |
| P29 | Exon 10 | c.1902C>G | p.Tyr634* | Nonsense | This study |
| P14 | Intron 2 | c.1056+1G>A | Splice Site | Jennes et al. (2008) | |
| P28 | Intron 9 | c.1884‐2A>G | Splice Site | This study | |
| F04 | Exon 1 | c.803G>A | p.Gly268Glu | Missense | This study |
| P09 | Exon 1 | c.791T>G | p.Leu264Arg | Missense | This study |
| P11, P12, P13 | Exon 2 | c.1019G>T | p.Arg340Leu | Missense | Jennes et al. (2008) |
| F9 | Exon 2 | c.1019G>A | p.Arg340His | Missense | Pedrini et al. (2005) |
| P15 | Exon 2 | c.1037G>C | p.Arg346Thr | Missense | Delgado et al. (2014) |
| P70 | Del EXT1 | Deletion | Hall et al. (2002) | ||
| P71 | Exon 1 | ex1del | Deletion | Jennes, not published | |
| (b) | |||||
| P34 | Exon 2 | c.202delG | p.Val68Leufs*43 | Frameshift | This study |
| P35 | Exon 2 | c.453insT | p.Gly152Trpfs*13 | Frameshift | This study |
| P37 | Exon 3 | c.539_540insTC | p.Asp181Glyfs*89 | Frameshift | This study |
| P38 | Exon 3 | c.550_551dupGT | p.Thr184Valfs*86 | Frameshift | This study |
| P51 | Exon 5 | c.760delC | p.Leu255Cysfs*15 | Frameshift | This study |
| F1, F2, F5, F18, F19, F20, F25, P56, P57, P58, P59, P17, P60, P61, P62, P63, P64, P65, P66 | Exon 8 | c.1225delG | p.Ala409Profs*26 | Frameshift | This study |
| F10, F13, P30, P31, P32, P33, | Exon 2 | c.151G>T | p.Glu51* | Nonsense | Lonie et al. (2006) |
| F11, F16, P41, P42, P43, P44, P45, P46, P47, P48, P49 | Exon 5 | c.869C>A | p.Ser290* | Nonsense | This study |
| F6, P67, P69 | Exon 8 | c.1182G>A | p.Trp394* | Nonsense | Delgado et al. (2014) |
| P36 | Intron 3 | c.626+1G>A | Splice Site | Vink et al. (2005) | |
| P39 | Intron 3 | c.626+2delT | Splice Site | This study | |
| P40 | Intron 4 | c.743+1G>A | Splice Site | Vink et al. (2005) | |
| P50 | Intron 4 | c.744‐13del14insATTC | Splice Site | This study | |
| P52, P53 | Intron 6 | c.1079+1G>A | Splice Site | Jennes, not published | |
| P54 | Intron 6 | c.1173+1dupG | Splice Site | Francannet et al. (2001) | |
| P55 | Exon 7 | c.1110G>T | p.Met370Ile | Missense | This study |
| F26 | Exon 6‐8 | ex6_ex8_del | Deletion | This study | |
⊤: P means individual case and F, familial nucleus.
All identified variants were submitted to ClinVar with ACMG 2015 classification criteria (Richards et al., 2015).