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Table 5 Allelic variants identified in the WNT10A gene

From: EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

FamilyGenderNMExon/IntronProteinNMExon/IntronProteinOriginClinical DiagnosisHGMD (*)
27Fc.1A > TExon 1p.M1?c.321C > AExon 2p.Cys107*Inherited/InheritedNSTA+[37]/ [38]
46Fc.27G > AExon 1p.Trp9*c.92 T > AExon 1p.Leu31GluInherited/InheritedHED[38]/Novel
43Fc.18_43del26Exon 1p.Arg7Alafs*28c.18_43del26Exon 1p.Arg7Alafs*28NDSSPSNovel
44Fc.18_43del26Exon 1p.Arg7Alafs*28c.1131C > AExon 4p.Cys377*Inherited/InheritedNormohidrotic EDNovel/Novel
41Mc.514A > TExon 2p.Arg172Trp(−)(−)(−)InheritedOODD[39]
28Mc. 682 T > AExon 3p.Phe228Ile(−)(−)(−)InheritedNSTA[38]
39Mc. 682 T > AExon 3p.Phe228Ile(−)(−)(−)InheritedNSTA[38]
49Mc.321C > AExon 2p.Cys107*c.321C > AExon 2p.Cys107*Inherited/InheritedSSPS[38]
  1. F female, M male, HED hypohidrotic ectodermal dysplasia, (*) Reference in HGMD database, NSTA non-syndromic tooth agenesis, NSTA+ non-syndromic tooth agenesis with other minor ectodermal anomalies, SSPS Schöpf-Schulz-Passarge, ND no data