Table 1.
Mutations and Predicted Protein Changes for P1–P4, P6, and P7
| Affected Persona | Mutationsb | Predicted Protein Effect | Mutation Detection Technique | Parental Carrier Status |
|---|---|---|---|---|
| P1 (M) | exon 6: c.740G>A | p.Gly247Glu | exome | mother: carrier |
| exon 8: c.875G>C | p.Arg292Pro | father: carrier | ||
| P2 (M) | exon 1: c.51_73dup (homozygous) | p.Ser25Cysfs∗38 | Sanger sequencing | father: carrier |
| mother: carrier | ||||
| P3 (F) | exon 6: c.726_727del | p.Val243Glufs∗2 | exome | mother: carrier |
| exon 7: c.822_823dup | p.Ile276Leufs∗26 | no paternal DNA | ||
| P4 (M) | exon 3: c.308_309del | p.Val103Glyfs∗10 | exome | mother: carrier |
| exon 6: c.755T>G | p.Val252Gly | father: carrier | ||
| P6 (F) | exon 7: c.802G>A (homozygous) | p.Val268Met | exome | father: carrier |
| mother: carrier | ||||
| P7 (M) | exon 12: c.1423C>T (homozygous) | p.Gln475∗ | Sanger sequencing | no parental DNA |
a
Affected person’s sex in brackets: M, male; F, female. DNA was not available for P5.
b
Mutation nomenclature follows the recommended guidelines of the Human Genome Variation Society with the nucleotide numbering based on GenBank reference sequence NM_152490.2 and verified with Mutalyzer 2.0.beta-21. Nucleotide numbering denotes the adenosine of the annotated translation start codon as nucleotide position +1.