Skip to main content

Table 2 PHEX mutations found in this study

From: Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

Pr

Inh

E/I

cDNA*

Protein**

Mutation Type

PHEXdb ID

1

F

E 01

c.77_78del

p.Phe26CysfsX24

Deletion

261

2

S

E 03

c.188-?_349+?del

p.?

Del (> 0.16 Kb)

264

3

F

E 03

c.188-?_349+?dup

p.Ala63_Lys116dup

Dup (E3)

262

4

F

E 03

c.212A > T

p.Asn71Ile

Missense

263

5

S

E 04

c.395_398dup

p.Gln133HisfsX14

Duplication

265

6

S

I 04

c.436+3G > C

p.?

Splicing

266

7

S

E 05

c.565C > T

p.Gln189X

Nonsense

171 [24]

8

S

E 05

c.591A > G

p. =

Splicing

267

9

F

E 06

c.682dup

p.Ser228PhefsX10

Duplication

268

10

F

E 07

c.750C > G

p.Tyr250X

Nonsense

269

11

S

E 07

c.784G > C

p.Ala262Pro

Missense

270

12

S

E 08

c.897_898del

p.Lys299AsnfsX5

Deletion

271

13

S

E 10

c.1105A > T

p.Arg369X

Nonsense

272

14

S

I 10

c.1173+1G > A

p.?

Splicing

273

15

S

E 13-15

c.1405-?-1645+?

p?

Del (> 22 Kb)

274

16

S

E 13-22

c.1412-?-2250+?

p.Ile495TrpfsX20

Del (> 80 Kb)

275

17

S

I 13

c.1482+4delA

p.?

Splicing

276

18

S

E 14

c.1529G > C

p.Arg510Pro

Missense

133 [25]

19

S

E 14

c.1543C > T

p.Gln515X

Nonsense

277

20

S

E 15

c.1639C > T

p.Gln547X

Nonsense

278

21

S

E 15

c.1645C > T

p.Arg549X

Nonsense

13 [23]

22

S

E 15

c.1645C > T

p.Arg549X

Nonsense

13 [23]

23

S

I 15

c.1645+1G > A

p.Phe550fsX21

Splicing

155 [26]

24

S

E 16-22

c.1646-?-2250+?

p.?

Del (> 34 Kb)

279

25

S

E 17-20

c.1701-?_2070+?

p.?

Del (> 29 Kb)

280

26

S

E 17

c.1735G > A

p.Gly579Arg

Missense

90 [23]

27

S

I 17

c.1768+174_1768+177dupTAAG

p.?

Splicing

281

28

S

E 18

c.1825G > T

p.Glu609X

Nonsense

282

29

S

E 19

c.1936_1938del

p.Asp646del

Del (in frame)

283

30

S

E 19

c.1952G > C

p.Arg651Pro

Missense

76 [13]

31

S

I 19

c.1965+1G > A

p.?

Splicing

62 [23]

32

S

E 21

c.2104C > T

p.Arg702X

Nonsense

16 [23]

33

F

E 21

c.2104C > T

p.Arg702X

Nonsense

16 [23]

34

S

E 21

c.2138_2139dupCT

p.Gln714LeufsX27

Duplication

284

35

S

E 22

c.2168dupA

p.Asn723LysfsX3

Duplication

285

36

S

E 22

c.2239C > T

p.Arg747X

Nonsense

17 [13]

  1. Pr proband, Inh inheritance, (F familial, S sporadic), E/I Exon/Intron, *[GenBank ID: NM_000444.4], **[Swiss-Prot: P78562], PHEXdb ID identification in the PHEX mutation database [18] in bold novel mutations