Table 1.
NR2F1 variants identified in the patient cohort
| Subject | Sex | HGVs | HGVp | Genotype | Domain | Type | In silico: |
|---|---|---|---|---|---|---|---|
| Polyphen-2, Mutation taster | |||||||
| (CADD score) | |||||||
| NR2F1_1 | F | c.4delG | p.(Ala2Glnfs*3) | Het | de novo | Disease causing (27.5) | |
| NR2F1_2 | F | c.51_69dup | p.(Asn24Glyfs*379) | Het | unknown | NA (24) | |
| NR2F1_3 | M | c.91_93dupCGC | p.(Arg31dup) | Het | unknown | NA (18.67) | |
| NR2F1_4 | F | c.115G>T | p.(Glu39*) | Het | de novo | Disease causing (34) | |
| NR2F1_5 | M | c.290A>C a, b | p.(His97Pro) | Het | DBD | de novo | Probably damaging, disease causing (26.5) |
| NR2F1_6 | M | c.353T>G b | p.(Leu118*) | Het | DBD | de novo | Disease causing (36) |
| NR2F1_7 | M | c.359dupA | p.(Tyr120*) | Het | DBD | likely de novo | Disease causing (33) |
| NR2F1_8 | F | c.366C>G a | p.(Cys122Trp) | Het | DBD | de novo | Probably damaging, disease causing (28.7) |
| NR2F1_9 | M | c.463G>A a | p.(Ala155Thr) | Het | DBD | de novo | Disease causing (34) |
| NR2F1_10 | M | c.513G>C a | p.(Tyr171*) | Het | unknown | Disease causing (37) | |
| NR2F1_11 | M | c.599C>G | p.(Thr200Arg) | Het | LBD | de novo | Probably damaging, disease causing (23.2) |
| NR2F1_12 | M | c.698G>A | p.(Trp233*) | Het | LBD | de novo | Disease causing (37) |
| NR2F1_13 | F | c.1024G>A | p.(Glu342Lys) | Het | LBD | de novo | Probably damaging, disease causing (32) |
| NR2F1_14 | F | c.1036_1047del | p.(Glu346_Gln349del) | Het | LBD | likely de novo | Disease causing (22.6) |
| NR2F1_15 | F | ||||||
| NR2F1_16 | F | c.1115T>C a, b | p.(Leu372Pro) | Het | LBD | familial | Probably damaging, disease causing (32) |
| NR2F1_17 | M | ||||||
| NR2F1_18 | F | c.1118_1123del | p.(Arg373_Leu374del) | Het | LBD | familial | Disease causing (22.7) |
| NR2F1_19 | F | ||||||
| NR2F1_20 | M | c.1183G>A | p.(Gly395Ser) | Het | LBD | de novo | Probably damaging, disease causing (32) |
| NR2F1_21 | M | c.1198G>T | p.(Glu400*) | Het | LBD | de novo | Disease causing (41) |
| NR2F1_22c | F | ∼599kb deletion | 5q15 deletion (92,914,091–93,513,068) | Het | WGD | de novo | NA |
CADD, Combined Annotation Dependent Depletion; DBD, DNA binding domain; Het, heterozygous; LBD, ligand binding domain; NA, not available; WGD, whole gene deletion.
a
Previously reported variants.
b
Variants listed in Clinvar database.
c
∼599 kb deletion includes entire NR2F1, FAM172A genes and partial NR2F1-AS1 and last exon of KIAA0825.