Table 1.
Details of Mosaic Mutations.*
| Participant Number | Phenotype | Sex | Gene | Variant | Alternate-Allele Read Frequency % | Mutant Cell Frequency† % | Protein Change | Effect Predicted by SIFT or PolyPhen-2‡ | Previously Reported |
|---|---|---|---|---|---|---|---|---|---|
| DC-4601§ | Double-cortex syndrome | F | DCX | ChrX:110644367:C→T | 5 | 10 | R186C | Damaging | Yes |
| DC-4401§ | Double-cortex syndrome | M | DCX | ChrX:110653322:G→A | 9 | 9 | R78L | Damaging | Yes |
| DC-401§ | Double-cortex syndrome | F | LIS1 | Chrl7:2569382:A→T | 13 | 26 | K64X | NA | No |
| DC-2101 | Double-cortex syndrome | F | DCX | ChrX:110544972:G→A | 15 | 30 | Splicing | NA | No |
| DC-5103 | Double-cortex syndrome | F | LIS1 | Chrl7:2583480:G→C | 16 | 32 | R342P | Damaging | No |
| PAC-902 | Pachygyria | M | TUBB2B | Chr6:3225184:G→C | 23 | 46 | R380P | Damaging | Yes¶ |
| DC-2801 | Double-cortex syndrome | F | LIS1 | Chrl7:2579901:G→A | 26 | 52 | Splicing | NA | Yes |
| PH-16001 | Periventricular nodular heterotopia | F | FLNA | ChrX:153587482:delG | 35 | 70 | S1449Pfs | NA | No |
*
Participants are listed in order of alternate-allele read frequency.
†
Data are the proportion of blood cells predicted to carry the mutations, calculated as double the alternate-allele read frequency for heterozygous autosomal mutations in either sex or for X-linked mutations in females and as equal to the alternate-allele read frequency for genes that are X-linked in males.
‡
The software does not give predictions for nonsense, frameshift, or splicing mutations. NA denotes not applicable.
§
Parental DNA was not available.
¶
A different amino acid alteration at this position has been reported previously.