Table 1.
Clinical and genetic features of patients and families with TMEM127 gene mutations
| ID | Family history |
Tumor location |
Age at onset (range within family) |
Number of affected individuals in family (total number of tumors) |
% Bilaterality of tumors* |
Nucleotide change (amino acid change) |
Mutation type |
Predicted protein length |
|---|---|---|---|---|---|---|---|---|
| 1 | Y | A | 34-54 | 7(10) | 42(3/7) | IVS3-2 A>C (p.Leu138fs) |
splice site |
148aa |
| 2 | U | A | 25 | 1(1) | 0 (0/1) | c.150insA (p.Pro51fs) |
insertion | 106aa |
| 3 | Y | A | 48-72 | 2(4) | 100 (2/2) | c.475C>T (p.Gln159X) |
nonsense | 158aa |
| 4 | N | A | 46 | 1(2) | 100 (1/1) | c.264- 267delCAGA (p.Thr89fs) |
deletion | 121aa |
| 5 | Y | A | 34-42 | 2 (2) | 0 (0/1) | IVS3-2 A>C (p.Leu138fs) |
splice site |
148aa |
| 6 | Y | A | 54-66 | 2(2) | 100 (2/2) | IVS2-1G>T (p.Phe83fs) |
splice site |
99aa |
| 7 | N | A | 32 | 1(1) | 0 (0/1) | c.268G>A (p.Val90Met) |
missense | 238aa |
number of cases with bilateral tumors/total number of affected cases in the family; Y= yes, N= no; U= unknown; A= adrenal