Table 1.
MSL3 variants identified in the 16 reported individuals of this study.
| Genomic position hg19 |
cDNA NM_078629.3 |
Protein Q8N5Y2–1 |
Inheritance | |
|---|---|---|---|---|
| Patient 1 | chrX:g.11790375G>T | c.1381+1G>T | NA | de novo |
| Patient 2 | chrX:g.11790367_11790374del | c.1374_1381del | p.(Leu459Glufs*13) | de novo |
| Patient 3 | chrX:g.11783713C>T | c.1036C>T | p.(Gln346*) | de novo |
| Patient 4 | chrX:g.11783600T>C | c.923T>C | p.(Leu308Pro) | de novo |
| Patient 5 | chrX:g.11790365C>T | c.1372C>T | p.(Arg458*) | de novo – Parental mosaicism |
| Patient 6 | chrX:g.11790365C>T | c.1372C>T | p.(Arg458*) | de novo – Parental mosaicism |
| Patient 7 | chrX:g.11780349_11780350delAC | c.566_567delAC | p.(Tyr189Leufs*3) | de novo |
| Patient 8 | chrX:g.11783695delG | c.1018delG | p.(Ala340Leufs*9) | de novo |
| Patient 9 | chrX:g.11783615dupC | c.938dupC | p.(Leu314Phefs*18) | de novo |
| Patient 10 | chrX:g.11783802_11783818dup17 | c.1125_1141dup17 | p.(Met381Argfs*30) | de novo |
| Patient 11 | chrX:g.11783850T>G | c.1171+2T>G | N/A | de novo |
| Patient 12 | Del exon 10 | . | . | de novo |
| Patient 13 | chrX:g.11781990C>T | c.841C>T | p.(Gln281*) | de novo |
| Patient 14 | chrX:g.11633731_11797224del | . | . | de novo |
| Patient 15 | chrX:g.11600773_12249902del | . | . | NA – Father not tested, absent in the Mother |
| Patient 16 | Inv(X)(p22.2q28) | . | . | Inherited from the mother – de novo in the mother |
NA: Not available.