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Table 1 Patients included in the study, clinical diagnosis and mutations

From: TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Patient Family Diagnosis Mutation Exon
1 1 MD c.1219A>G; p.K407E* 7
2 2 MD c.2396C>T; p.P799L 15
3 2 MD c.2396C>T; p.P799L 15
4 3 MD c.2396C>T; p.P799L 15
5 4 MD/SMDK c.1781G>A; p.R594H 11
6 4 MD/SMDK c.1781G>A; p.R594H 11
7 4 MD/SMDK c.1781G>A; p.R594H 11
8 5 MD c.2395C>T; p.P799S 15
9 6 MD c.1780C>A; p.R594S* 11
10 7 MD c.1781G>A; p.R594H 11
11 8 MD c.1781G>A; p.R594H 11
12 9 MD c.2396C>T; p.P799L 15
13 10 MD c.2396C>T; p.P799L 15
14 11 MD c.717G>C; p.Q239H* 5
15 12 SMDK c.1781G>A; p.R594H 11
16 13 SMDK c.1781G>A; p.R594H 11
17 14 SMDK c.1566_68dup; p.L523dup* 9
18 15 SMDK c.1851C>A; p.F617L 12
19 16 Brachyolmia c.1772A>G; p.Y591C* 11
20 16 SMDK c.1772A>G; p.Y591C* 11
21 16 SMDK c.1772A>G; p.Y591C* 11
22 17 SMDK c.1781G>A; p.R594H 11
23 18 MD negative -
24 19 SMDK negative -
25 20 Brachyolmia negative -
26 21 Brachyolmia negative -
  1. * indicates novel mutations not previously described in the literature