GNPTAB genotypes in mucolipidosis (ML) II, ML III and ML intermediate
| Genotype | ML II | ML intermediate | ML III | |||
| Exon | Mutant alleles | Exon | Mutant alleles | Exon | Mutant alleles | |
| (A) Thirty-six patients (thirty-four probands) in core group | ||||||
| Nonsense/frameshift | 15/19 | c.3091C>T//c.3503delTC | – | – | – | – |
| 10/13 | c.1123C>T//c.2693insA | – | – | – | – | |
| 19/19 | c.3503delTC//c.3565C>T | – | – | – | – | |
| 19/17 | c.3565C>T//c.3327insA | – | – | – | – | |
| 13/19 | c.2664C>G//c.3503delTC | – | – | – | – | |
| Homozygous frameshift | 12 | c.1581delC | 4 | c.342delCA | – | – |
| 11 | c.1399delG | – | – | – | – | |
| 19 | c.3503delTC | – | – | – | – | |
| 19 | c.3503delTC | – | – | – | – | |
| Compound heterozygous frameshift | 7/? | c.648delAGAA/ND | – | – | – | – |
| 6/19 | c.616delCAGA//3503delTC | – | – | – | – | |
| 6/19 | c.616delCAGA//3503delTC | – | – | – | – | |
| 19/2 | c.3503delTC//c.171delA | – | – | – | – | |
| Frameshift/splice | – | – | – | – | 19/17 | c.3443delTTTG//c.3335+6T>G |
| – | – | – | – | 19/17 | c.3503delTC//c.3335+6T>G | |
| – | – | – | – | 17/19 | c.3335+6T>G//c.3443delTTTG | |
| – | – | – | – | 17/11 | c.3335+6T>G//c.1399delG | |
| Frameshift/missense | – | – | 13/1 | c.1964delC//c.10C>A | 5/9 | c.569A>T//c.3503delTC |
| – | – | 1/11 | c.10C>A//c.1399delG | – | – | |
| – | – | 1/13 | c.10C>A//c.2190delT | – | – | |
| – | – | 5/7 | c.569A>T//c.750insA | – | – | |
| Splice/nonsense | – | – | – | – | 13/2 | c.2715+2T>G//c.168T>A |
| – | – | – | – | 19/17 | c.3565C>T//c.3335+6T>G | |
| – | – | – | – | 17/19 | c.3335+6T>G//c.3565C>T | |
| Splice/missense | – | – | 11/18 | c.1402T>A//c.3336-1G>A | 10/17 | c.1196C>T//c.3335+6T>G* |
| Missense/nonsense | – | – | – | – | 10/10 | c.1123C>T//c.1196C>T |
| – | – | – | – | 10/10 | c.1196C>T//c.1123C>T | |
| – | – | – | – | 9/5 | c.1000C>T//c.596A>T | |
| Homozygous missense | – | – | 15 | c.3053A>G | – | – |
| Compound heterozygous missense | – | – | – | – | 3/12 | c.232delGTT†//c.1514G>A |
| – | – | – | – | 9/1 | c.1001G>A//c.44C>A | |
| – | – | – | – | – | – | – |
| (B) Twenty-seven patients in non-core group | ||||||
| Homozygous nonsense | 9 | c.1090C>T | – | – | – | – |
| 15 | c.3061C>T | – | – | – | – | |
| Nonsense/frameshift | 2/19 | c.136C>T//c.3503delTC* | – | – | – | – |
| 3/13 | c.1759C>T//c.1959del4* | – | – | – | – | |
| 11/18 | c.1399delG//c.3410T>A* | – | – | – | – | |
| Homozygous frameshift | 19 | c.3503delTC | – | – | – | – |
| 13 | c.2275delA | – | – | – | – | |
| 4 | c.342delCA | – | – | – | – | |
| 19 | c.3503delTC | – | – | – | – | |
| 16 | c.3232delT | – | – | – | – | |
| 19 | c.3503delTC | – | – | – | – | |
| Compound heterozygous frameshift | 11/19 | c.1399delG//c.3503delTC* | – | – | – | – |
| 13/19 | c.2188delTinsAAA//c.3503delTC* | – | – | – | – | |
| 13/19 | c.2529insG//c.3503delTC* | – | – | – | – | |
| 13/19 | c.1999insT//c.3503delTC | – | – | – | – | |
| Frameshift/splice | 4/16 | c.342delCA//c.3249+G>C* | – | – | 5/17 | c.517insA//c.3335+6T>G* |
| 7/19 | c.637-1G>A//c.3503delTC | – | – | 17/19 | c.3335+6T>G//c.3503delTC* | |
| – | – | – | – | 11/17 | c.1399delG//c.3335+6T>G* | |
| Frameshift/missense | 19/9 | c.3503delTC//c.1001G>C | 1/11 | c.10C>A//c.1399delG* | 1/19 | c.44C>A//c.3503delTC |
| 6/9 | c.625del5//c.1042A>C* | – | – | – | – | |
| Splice/nonsense | – | – | – | – | 17/10 | c.3335+6T>G//c.1123C>T |
| – | – | – | – | – | – | |
| Homozygous splice | – | – | – | – | 5 | c.571+3A>C |
| Splice/missense | – | – | – | – | 11/14 | c.1285-2A>G//c.2867A>G* |
ND indicates that an apparent structural rearrangement has not been completely delineated.
↵* Parental origin of mutations unknown; when known, paternal mutation is always on the left and maternal on the right.
↵† Three-nucleotide deletion not expected to cause a frameshift; patient classified as a missense compound heterozygote.