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. Author manuscript; available in PMC: 2014 Sep 1.
Published in final edited form as: J Invest Dermatol. 2013 Sep 5;134(3):658–665. doi: 10.1038/jid.2013.370

Table 2.

Molecular and biochemical features of GACI patients

Patient Family Age Mutation 1 Mutation 2 Mutation type2 Plasma [FGF23], RU/mL3
1 A 3 yrs p.R1314W p.R1314W MS/MS 59
2 A 6 yrs p.R1314W p.R1314W MS/MS 97
3 B 1 mo c.2787+1G>T c.3736−1G>A SS/SS NT5
4 C 5 yrs p.R391G ND1 MS/ND 83
5 D 1 mo p.R1141* c.346-6G>A NS/SS4 NT
6 E 1 mo c.3692 insTT ND FS/ND 374
7 F 1 mo p.R760W del23-29 MS/del 1430
1

ND, not detected.

2

MS, missense; SS, splice site; NS, nonsense; FS, frame shift

3

FGF23 normal range is < 230 RU/mL for ages 3 months to 17 years. Values greater than 900 RU/mL are present in infants.

4

The effects of the c.346-6G>A mutation on splicing have not been experimentally confirmed

5

NT, not tested as serum sample was not available