Table 3 Molecular analysis of the cohort
From: Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort
GSD type | Gene | Gender | Variants | Protein | Coding impact | ACMG/AMP classification | Inheritance |
|---|---|---|---|---|---|---|---|
0a | GYS2 12p12.1 | ♂ | c.574C > T | p.Arg192Ter | Nonsense | 5 | M |
c.574C > T | p.Arg192Ter | Nonsense | 5 | P | |||
♀ | c.1322C > T | p.Pro441Leu | Missense | 3 | P* | ||
c.1400A > T | p.Asn467Ile | Missense | 3 | M | |||
c.1965G > C | p.Gln655His | Missense | 1 | P* | |||
♀ | c.1156C > T | p.Arg386Ter | Nonsense | 5 | P | ||
c.1436C > A | p.Pro479Gln | Missense | 4 | M | |||
♀ | C.163A > G | p.Thr55Ala | Missense | 3 | NA | ||
c.1169G > C | p.Trp390Ser | Missense | 3 | NA | |||
♀ | c.1062 + 1G > T | p.? | Splicing | 5 | NA | ||
c.1965G > C | p.Gln655His | Missense | 1 | NA | |||
♂ | c.736C > T | p.Arg246Ter | Nonsense | 5 | P | ||
c.1436C > A | p.Pro479Gln | Missense | 4 | M | |||
VI | PYGL | ♂ | c.2 T > A | p.Met1Lys | Start loss | 5 | M |
17q21.31 | c.1015A > G | p.Asn339Asp | Missense | 3 | P | ||
IXa | PHKA2 Xp22.13 | ♂ | c.133C > T | p.Arg45Trp | Missense | 4 | M |
♂ | c.134G > A | p.Arg45Gln | Missense | 4 | M | ||
♂ | c.328delG | p.Asp110ThrfsTer39 | Frameshift | 5 | de novo | ||
♂ | c.571A > T | p.Asn191Tyr | Missense | 3 | M | ||
♂ | c.618G > A | p.Lys206 = | Synonimous, splice junction loss | 5 | M | ||
♂ | c.928C > T | p.Arg310Ter | Nonsense | 5 | M | ||
♂ | c.1166_1167delCA | p.Thr389SerfsTer33 | Frameshift | 5 | M | ||
♂ | c.2443G > A | p.Gly815Ser | Missense | 3 | M | ||
♂ | c.2675A > G | p.Gln892Arg | Missense | 5 | M | ||
♂ | c.2677-2A > G | p.? | Splicing | 5 | M | ||
♂ | c.2746C > T | p.Arg916Trp | Missense | 5 | M | ||
♂ | c.2746C > T | p.Arg916Trp | Missense | 5 | M | ||
♂ | c.3373G > A | p.Glu1125Lys | Missense | 4 | M | ||
♂ | c.3512C > T | p.Ala1171Val | Missense | 4 | M | ||
♂ | c.3614C > T | p.Pro1205Leu | Missense | 5 | M | ||
♂ | Del206kb reg Xp22.13 | p.? | Deletion | 5 | M (siblings) | ||
♂ | Del206kb reg Xp22.13 | p.? | Deletion | 5 | |||
IXb | PHKB 16q12.1 | ♂ | c.511C > T | p.Gln171Ter | Nonsense | 5 | M |
c.1969C > T | p.Gln657Ter | Nonsense | 5 | P | |||
♀ | c.1969C > T | p.Gln657Ter | Nonsense | 5 | M | ||
c.1969C > T | p.Gln657Ter | Nonsense | 5 | ** | |||
♀ | c.2275delG | p.Glu759LysfsTer38 | Frameshift | 5 | M | ||
c.2275delG | p.Glu759LysfsTer38 | Frameshift | 5 | F | |||
♀ | c.2536G > T | p.Glu846Ter | Nonsense | 5 | NA | ||
c.2536G > T | p.Glu846Ter | Nonsense | 5 | NA | |||
IXc | PHKG2 16p11.2 | ♂ | c.112G > A | p.Val38Ile | Missense | 5 | M |
c.112G > A | p.Val38Ile | Missense | 5 | ** | |||
♀ | c.1070 T > C | p.Leu357Pro | Missense | 4 | M | ||
c.1070 T > C | p.Leu357Pro | Missense | 4 | P |