Table 1 Variant summary for each family.
Family I | Family II | Family III | Family IV | Family V | |
|---|---|---|---|---|---|
Maximum LOD score | 1.93 | Singleton | Nonconsanguineous | 2.9 | 2.5 |
Gene | EXOC7 | EXOC7 | EXOC7 | EXOC7 | EXOC8 |
Variant type | Splice variant | In-frame deletion | Splice variant & in-frame deletion | Missense | Frameshift deletion |
Variant | Exon 7 splice acceptor (c.809–2A>G) | Ser48del (GGAT>G) | Exon 7 splice acceptor (c.809–2A>G) & exon 10: c.1212_1226 delTGGGCTG ATGCTTGA | Ala523Thr (C>T) | Asp607Ter (CCT>C) |
Segregates in family | Yes | Yes | Yes | Yes | Yes |
gnomAD frequency | 2/251,414 alleles, heterozygous | 2/276,426 alleles, heterozygous | Splice: 2/251,414 alleles, heterozygous & deletion: absent | 2/277,066 alleles, heterozygous | Absent |
