Table 2.
Molecular Summary of the Multilocus Pathogenic Variation Cohort
| Family ID (HOU#) | Proband ID (BAB#) | Gene | Nucleotide (Protein) | Zygosity | AOH Block Around the Gene (Mb) | Total AOH (Mb) |
|---|---|---|---|---|---|---|
| HOU2523 | BAB6807 | COL6A3 | c.619C>T (p.Gln207∗) | Hmz | 7.8 | 153.9 |
| ABCA7 | c.5092C>T (p.Arg1698Trp) | Hmz | 3.8 | |||
| BAB6808 | ABCA7 | c.5092C>T (p.Arg1698Trp) | Hmz | 3.0 | 180.2 | |
| ADNP | c.775A>C (p.Asn259His) | Hmz | – | |||
| HOU2790 | BAB7710 | ECEL1 | c.505_529del (p.Gly169Serfs∗26) | Hmz | 20.1 | 257.4 |
| FLII | c.2590C>T (p.Arg864Trp) | Hmz | 2.2 | |||
| HOU2817 | BAB7845 | RYR3 | c.2486G>A (p.Arg829His) | Hmz | 1.8 | 247.5 |
| MYO18B | c.2879C>T (p.Ala960Val) | Comp Htz | – | |||
| c.3397C>T (p.Arg1133Trp) | – | |||||
| HOU3050 | BAB8397 | NEB | c.19101+5G>A | Hmz | – | 374.7 |
| MID1IP1 | c.297C>G (p.Asn99Lys) | Hemi | – | |||
| HOU3051 | BAB8400 | GBE1 | c.1864_1866del (p.Leu622del) | Hmz | 37.9 | 110.6 |
| AP4M1 | c.136C>G (p.Pro46Ala) | Hmz | 14.2 | |||
| TAF9B | c.133C>A (p.Arg45Ser) | Hemi | – | |||
| HOU3112 | BAB8532 | SPEG | c.6971T>A (p.Ile2324Asn) | Hmz | 22.6 | 107.2 |
| MYOM3 | c.1684G>A (p.Val562Ile) | Comp Htz | – | |||
| c.3534+56C>T | ||||||
| CIT | c.2651A>C:p.Gln884Pro | Htz | – | |||
| HOU3125 | BAB8600 | FBN2 | c.4094G>C (p.Cys1365Ser) | Htz | – | – |
| BAB8601 | FBN2 | – | 31.9 | |||
| COL6A3 | c.367G>A (p.Val123Met) | Hmz | 1.5 | |||
| HOU3127 | BAB8606 | COG6 | c.726del (p.Cys242Trpfs∗7) | Hmz | 16.9 | 195.2 |
| MED27 | c.770C>T (p.Pro257Leu) | Hmz | 11.8 | |||
| BAB8609 | MED27 | c.770C>T (p.Pro257Leu) | Hmz | 2.0 | 233.7 | |
| HOU3149 | BAB8688 | KLHL7 | c.1258C>T (p.Arg420Cys) | Hmz | 17.9 | 132.0 |
| HOXA11 | c.304G>A (p.Val102Met) | Hmz | 17.9 | |||
| TNRC6C | c.1022G>A (p.Gly341Glu) | Hmz | 7.0 | |||
| HOU3180 | BAB8807 | DRG1 | c.118C>T (p.Arg40∗) | Hmz | 6.7 | 251.6 |
| TANC1 | c.2830C>T (p.His944Tyr) | Hmz | 10.3 | |||
| BRWD3 | c.592-3T>C | Hemi | – | |||
| HOU3943 | BAB10708 | SPEG | c.9575C>A (p.Thr3192Asn) | Htz | – | 233.8 |
| TPM2 | c.620_631dup (p.Gln210_Ala211insValGluAlaGln) | Htz | – | |||
| ABCA7 | c.3076C>T (p.Arg1026Cys) | Comp Htz | – | |||
| c.4045C>T (p.Arg1349Trp) | – |
Abbreviations are as follows: Mb = megabase, AOH = absence of heterozygosity, Hmz = homozygous, Hemi = hemizygous, Htz = heterozygous, and Comp Htz = compound heterozygous.