Characteristics of the HNF-1α mutations segregating with diabetes in the 13 MODY3 families
Family ID no. . | Mutation . | No. of carriers with diabetes/IGT . | Age (years) at onset . | . | |
---|---|---|---|---|---|
. | . | . | Mean . | Range . | |
01 | E24fsdelGA | 4/− | 20 | 14–28 | |
02 | L44fsdelC | 4/− | 11 | 10–13 | |
03 | L107R | 16/− | 19 | 9–37 | |
04 | A116V | 8/− | 29 | 13–48 | |
05 | R131W | 9/1 | 21 | 11–41 | |
06 | Q146K | 5/− | 15 | 10–24 | |
H147R | |||||
07 | E240Q | 4/2 | 25 | 19–35 | |
08 | R272H | 6/− | 22 | 17–34 | |
09 | P291fsdelC | 3/− | 13 | 10–18 | |
10 | P291fsinsC | 13/− | 20 | 8–48 | |
11 | P291fsinsC | −/4 | — | — | |
12 | P379fsdelCT | 6/− | 19 | 13–26 | |
13 | A443fsdelCA | 9/2 | 31 | 16–49 | |
Total | 87/9 | 21 | 8–49 |
Family ID no. . | Mutation . | No. of carriers with diabetes/IGT . | Age (years) at onset . | . | |
---|---|---|---|---|---|
. | . | . | Mean . | Range . | |
01 | E24fsdelGA | 4/− | 20 | 14–28 | |
02 | L44fsdelC | 4/− | 11 | 10–13 | |
03 | L107R | 16/− | 19 | 9–37 | |
04 | A116V | 8/− | 29 | 13–48 | |
05 | R131W | 9/1 | 21 | 11–41 | |
06 | Q146K | 5/− | 15 | 10–24 | |
H147R | |||||
07 | E240Q | 4/2 | 25 | 19–35 | |
08 | R272H | 6/− | 22 | 17–34 | |
09 | P291fsdelC | 3/− | 13 | 10–18 | |
10 | P291fsinsC | 13/− | 20 | 8–48 | |
11 | P291fsinsC | −/4 | — | — | |
12 | P379fsdelCT | 6/− | 19 | 13–26 | |
13 | A443fsdelCA | 9/2 | 31 | 16–49 | |
Total | 87/9 | 21 | 8–49 |