Skip to main content

Table 1 Demographic and genetic data of 48 patients belonging to 39 families (Roman number indicates family)

From: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

Patient Relationship Sex cDNA mutation Protein mutation Variant type
I.1 Index F c.758_759delTT p.F26Cfs P (PVS1)
I.2 Sister F c.758_759delTT p.F26Cfs P (PVS1)
II.1 Index F c.2223_2224delAC p.A514Afs516X P (PVS1)
III.1 Index F c.1578_1579delAA p.K299Nfs304X P (PVS1)
IV.1 Index M c.893A>T p.N71I P (PS1)
IV.2 Brother M c.893A>T p.N71I P (PS1)
V.1 Index F c.2633G>C p.R651P P (PS1)
VI.1 Index F c.1885C>T p.Q402X P (PVS1)
VII.1 Index M c.?-2664dup2949-? Splice region variant P (PVS1)
VII.2 Brother M c.?-2664dup2949-? Splice region variant P (PVS1)
VII.3 Daughter F c.?-2664dup2949-? Splice region variant P (PVS1)
VII.4 Daughter F c.?-2664dup2949-? Splice region variant P (PVS1)
VIII.1 Index F c.886insT p.K69X P (PVS1)
IX.1 Index F c.2048G>A p.W456X P (PVS1)
X.1 Index F g.22099152G>T Splice region variant P (PVS1)
XI.1 Index M c.2648_?del p.A656_?del P (PVS1)
XII.1 Index F c.2327_?del p.R549_?del P (PVS1)
XIII.1 Index F g.22168393_delA Splice region variant P (PVS1)
XIV.1 Index F c.1552C>T p.R291X P (PVS1)
XV.1 Index F g.22190503G>A Splice region variant P (PVS1)
XVI.1 Index F c.889_893delGTAAA p.V70Sfs77X P (PVS1)
XVII.1 Index F c.2086_?del p.A469_?del P (PVS1)
XVIII.1 Index F c.1180T>C p.W167R P (PS1)
XIX.1 Index F c.2282C>T p.P534L P (PS1)
XX.1 Index F c.2416G>A p.G579R P (PS1)
XXI.1 Index F c.2920C>T p.R747X P (PVS1)
XXII.1 Index F c.2920C>T p.R747X P (PVS1)
XXIII.1 Index M c.1152delA p.L157Lfs220X P (PVS1)
XXIV.1 Index F c.1572C>A,c.1580_1582delTGA p.Y297X P (PVS1)
XXV.1 Index F g.22076478A>T Splice region variant P (PVS1)
XXVI.1 Index F g.22190507G>A Splice region variant P (PVS1)
XXVII.1 Index F c.889_893delGTAAA p.V70Sfs77X P (PVS1)
XXVII.2 Father M c.889_893delGTAAA p.V70Sfs77X P (PVS1)
XXVIII.1 Index M c.2879G>T p.C733F P (PS1)
XXVIII.2 Sister F c.2879G>T p.C733F P (PS1)
XXIX.1 Index F c.2642T>C p.F654S P (PS1)
XXX.1 Index M c.2387T>G p.L569R P (PS1)
XXX.2 Mother F c.2387T>G p.L569R P (PS1)
XXXI.1 Index F c.2085G>C p.K468N P (PS1)
XXXII.1 Index M c.2282C>T p.P534L P (PS1)
XXXIII.1 Index M g.22033125T>G Splice region variant P (PVS1)
XXXIV.1 Index M c.2380C>T p.R567X P (PVS1)
XXXV.1 Index M c.2005G>T p.V442P P (PS1)
XXXV.2 Mother F c.2005G>T p.V442P P (PS1)
XXXVI.1 Index F c.2416G>A G579R P (PS1)
XXXVII.1 Index M g.22099152G>A Splice region variant P (PVS1)
XXXVIII.1 Index F c.2617delG p.D646Ifs P (PVS1)
XXXIX.1 Index M c.1363_1364delTC p.S228Pfs236X P (PVS1)
  1. F: female, M: male
  2. P: pathogenic
  3. PVS1: very strong evidence of pathogenicity according to reference 19
  4. PS1: strong evidence of pathogenicity according to reference 19