Type of mutation | Exon | Mutation | Protein change predicted | Family | Sex | Phenotype | Reference |
---|---|---|---|---|---|---|---|
Nonsense | 2 | c.79 C > T | p.Arg27* | nd | F | MICPCH | [28] |
 | 4 | c.316 C > T | p.Arg106* | de novo/de novo | F/M | MICPCH | [28], This study |
 | 5 | c.379 C > T | p.Glu127* | nd | F | MICPCH | [29] |
 | 17 | c.1639 C > T | p.Gln547* | nd | F | MICPCH | [29] |
 | 21 | c.1915 C > T | p.Arg639* | de novo | F | MICPCH | [26] |
 | 21 | c.1968 G > A | p.Trp656* | de novo | F | MICPCH | [27], This study |
 | 21 | c.1970 G > A | p.Trp657* | de novo | F | MICPCH | [27], This study |
 | 22 | c.2074 C > T | p.Gln692* | nd/de novo | F | MICPCH | [29], This study |
 | 22 | c.2080 C > T | p.Gln694* | de novo | F | MICPCH | This study |
 | 27 | c.2632 C > T | p.Gln878* | de novo | F | MICPCH | [28] |
Frameshift | 2 | c.68delT | p.Phe23fs | de novo | F | MICPCH | [29] |
 | 3 | c.243_244delTA | p.Tyr81* | nd | F | MICPCH | [28] |
 | 15 | c.1501dupA | p.Met501fs | de novo | F | MICPCH | This study |
 | 16 | c.1578delG | p.Arg526fs | de novo | F | MICPCH | [27] |
Splice defect | I2 | c.173-2A > C | Skipping of exon 3 leading to premature stop codon | de novo | F | MICPCH | [29] |
 | I3 | c.278 + 1 G > A | Exon skipping ? a | de novo | M | MICPCH | This study |
 | I4 | c.357-1 G > A | Skipping of exon 5 or skipping of exon 5 and insertion of partial intron 5 | de novo | F | MICPCH | [28] |
 | I5 | c.430-2A > T | Exon skipping ? a | nd | F | MICPCH | [29] |
 | I8 | c.831 + 2 T > G | Exon skipping ? a | de novo | F | MICPCH | [29] |
 | 9 | c.915 G > A | Skipping of exon 9 leading to an in-frame deletion of 28 amino-acids | Mother normal | M | MICPCH | [26] |
 | I17 | c.1668 + 1 G > A | Exon skipping ? a | de novo | F | MICPCH | [29] |
 | I21 | c.2039 + 1 G > T | Exon skipping ? a | de novo | F | MICPCH | This study |
 | I21 | c.2040-1 G > C | Skipping of partial or entire exon 22 | de novo | F | MICPCH | [28] |
 | I21 | c.2040-2A > G | Exon skipping ? a | de novo | F | MICPCH | This study |
 | 22 | c.2129A > G | p.710_718del splicing defect leading to an in-frame deletion of 9 amino acids | familial | M | ID-nystagmus | |
 | I24 | c.2302 + 5 G > A | Skipping of exon 24 leading to an in-frame deletion of 28 amino acids and insertion of a Asp residue | de novo | F | MICPCH | This study |
 | I25 | c.2521-2A > T | Splicing defect leading to 2 in-frame deletions (3 amino acids; 28 amino acids) | familial | M | ID-nystagmus | [35] |
Missense | 2 | c.83 G > T | p.Arg28Leu | Familial | M/F | FG syndrome | [34] |
 | 8 | c.802 T > C | p.Tyr268His | Familial | M | ID-nystagmus | |
 | 13 | c.1186 C > T | p.Pro396Ser | Familial | M/F | ID | |
 | 23 | c.2168A > G* | p.Tyr723Cysb | Familial | M/F | ID-nystagmus | [35] |
 | 27 | c.2740 T > C** | p.Trp914Argc | Familial | M | ID |