Page 77 - Clinical variability in Noonan syndrome with emphasison ear and eye

Table 1. Genotype and hearing impairment in 71 patients
EXTERNAL EAR ANOMALIES AND HEARING IMPAIRMENT IN NOONAN SYNDROME
Gene Nucleotide change
PTPN11 c.5C>T c.124A>G
c.179 G>C c.181G>A c.181A>G c.182A>G c.184T>G c.186A>G c.188A>G c.205G>C c.228G>T c.236A>G c.317A>C c.417G>C c.794G>A c. 854T>C c.922A>G c.923A>G c.1472C>T c.1504T>A c.1507G>A c.1508G>A c.1510A>G
SOS1 c.286G>T c.508A>G c.742C>T c.806T>C c.806T>G
c.1656G>C c.2104T>C c.2536G>A c.3134C>G
RAF1 c.770C>T c.782C>G
c.1457A>G
c.1837C>G SHOC2 c.4A>G
KRAS c.40G>A MAP2K2 c.401A>G A2ML1 c.4061+1G>A
Amino acid change N
p.Thr2Ile 1 P.Thr42Ala 3 p.Gly60Asp 1 p.Asp61Asn 3 p.Gln79Arg 1 p.Asp61Gly 2 p.Tyr62Asp 1 p.Tyr63Cys 1 p.Tyr63Cys 2 p.Glu69Gly 1 p.Glu76Cys 1 p.Gln79Arg 4 p.Asp106Ala 1 p.Glu139Asp 1 p.Arg265Glu 3 p.Phe285Ser 1 p.Asn308Asp 12 p.Asn308Ser 1 p.Pro491Leu 1 p.Ser502Thr 1 p.Gly503Arg 1 p.Gly503Glu 1 p.Met504Val 4 p.Trp729Leu 1 p.Lys170Glu 1 p.Arg248Cys 1 p.Met269Thr 1 p.Met269Arg 1 p.Arg552Ser 1 p.Tyr702His 1 p.Glu846Lys 1 p.Pro1045Arg 2 p.Ser257Leu 1 p.Pro261Arg 1 p.Asp486Gly 2 p.Leu613Val 1 p.Ser2Gly 5 p.Val14Ile 1 p.Tyr134Cys 1
1
SNHI
2
MHI
PCHI THI
1 1 2
1
1
1
1 1
2 1
1
1
1 1
3 1 1
1
2
1 1
1
1
SNHI = sensorineural hearing impairment, MHI = mixed hearing impairment, PCHI = permanent conductive hearing impairment, THI = temporary hearing impairment.
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