Skip to main content
. 2017 Jun 16;102(9):3085–3090. doi: 10.1210/jc.2017-00529

Table 1.

Table Summarizing Clinical Phenotype and Genotype Information for Published Cases Harboring Biallelic, Confirmed Truncating Mutations in DUOX2

Reference Case DUOX2 Mutation bsTSH (mU/L) vTSH (mU/L) FT4 (ng/dL) US KClO4 (%) CH Duration
Current cases P1 p.[R434*];[R434*] — >100a <0.09a — — P
P2 p.[R434*];[R434*] — >100b — G — P
Nicholas et al., 2016 (10) 1 p.[ L1028Afs*3];[ L1028Afs*3] — 55 — N —
Tan et al., 2016 (11) 2 p.[K530*];[K530*] 14.76 86.06 0.76 G — T
3 p.[K530*];[K530*] 111.45 >100 <0.4 N — T
4 p.[K530*];[K530*] 20.25 >100 <0.4 G — T
5 p.[K530*];[K530*] 122.66 23.9 0.92 N — MP
6 p.[K530*];[Q202Rfs*93] 9.3 >100 <0.4 G — T
7 c.647-656del10ins15/p.K530* 54.64 92.38 0.60 G — MP/T
8 p.[K530*];[K530*] 14.05 9.58 0.92 G — T
9 p.[K530*];[K1174Sfs*12] 11.88 >100 0.49 N — —
10 p.[R701*];[K530*] 46.17 >100 0.43 G — MP/T
11 p.[Q202Tfs*99];[K530*] 14.47 12.1 1.03 G — —
Fu et al., 2016 (9) 12 p.[K530*];[K530*] >8 >100 0.17 N — T
13 p.[L1114Sfs*56];[K530*]c >8 >100 0.32 N — T
Fu et al., 2015 (12) 14 p.[L1114Sfs*56];[K530*]c >8 >100 0.32 N — T
15 p.[L1114Sfs*56;W301C];[K530*] >8 >100 0.63 H — P
Muzza et al., 2014 (2) 16 p.[Q202Tfs*99];[T522Pfs*64] 18 180 — — 57 P
17 p.[Q202Tfs*99];[T522Pfs*64] 21 130 — — 66 P
Maruo et al., 2008 (8) 18 p.[L479Sfs*2];[K628Rfs*10] 36.9 95.4 0.43 G — T
19 p.[L479Sfs*2];[K628Rfs*10] 21.4 233 0.19 G — T
20 p.[L479Sfs*2];[K628Rfs*10] 18.5 150 0.53 G — T
21 p.[L479Sfs*2];[K628Rfs*10] 10 25.7 1.5 G — T
Varela et al., 2006 (6) 22 p.[G418Efs*64];c.[2655-2A>C] — >100 <1d G 60 P
23 p.[G418Efs*64];c.[2655-2A>C] — >100 0.8d G 68 P
Moreno et al., 2002 (4) 24 p.[R434*];[R434*] >50 1400 0.07 — 100 P

Abbreviations: bsTSH, blood spot screening TSH; G, goiter; H, hypoplastic; KClO4, perchlorate discharge; MP, mild permanent; N, normal; P, permanent; T, transient; US, ultrasound; vTSH, venous confirmatory TSH.

a

Biochemistry aged 6 months (P1).

b

Biochemistry aged 8 days (P2).

c

Compound heterozygosity assumed.

d

Total T4, μg/dL, normal range 5.98 to 13.9, measured aged 8 months (case 22) and 1 month (case 23). Normal ranges: FT4 ng/dL: Moreno et al., 0.9 to 2.3; Fu et al., 0.9 to 1.7; Maruo et al., 0.97 to 1.7; Tan et al., 0.9 to 2.28.