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Table 1 EDA genotype of the study participants and data related to their sweating ability

From: Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

CodeAge at enrolment (months)EDA variantChanges at the amino acid levelPilocarpine-induced sweat volume (μL)Sweat pores/cm2 (plantar)Body temperature (°C; average of independent measurements)
Male subjects
 M3–00117c.608C > Tp.Pro203Leu0.022.237.15
 M3–00235c.467_468delp.Arg156GlnfsX20.01.436.90
 M3–00335c.467G > Ap.Arg156His0.00.036.95
 M3–00527c.1075A > Tp.Lys359X0.00.037.25
 M3–00724c.463C > Tp.Arg155Cys0.05.637.10
 M3–00811c.1133C > Tp.Thr378Met0.00.036.90
 M3–00933c.1141G > Cp.Gly381Arg0.00.037.15
 M3–01222c.467G > Ap.Arg156His0.00.037.15
 M3–01327c.376_379delp.Asp126ProfsX100.02.836.85
 M3–01433c.793G > Tsplice-site alteration0.00.037.20
 M3–01517c.925-3C > Gsplice-site alteration0.00.036.95
 M3–01621c.502 + 1G > Asplice-site alteration0.08.337.35
 M3–01728c.463C > Tp.Arg155Cys0.013.937.05
 M3–01829c.467G > Ap.Arg156His0.00.037.00
 M3–01926 duplication of exons 3–80.041.736.90
 M3–02031c.1072C > Tp.Gln358X0.00.036.50
 M3–02228c.911A > Gp.Tyr304Cys0.00.036.80
 M3–02317c.648_665del18p.Pro216_Gly221del0.00.036.65
 M3–02526c.1133C > Tp.Thr378Met0.00.037.05
 Average25.63//0.005.0536.99
 SD6.73//0.0010.670.21
Female subjects
 F3–00435c.467G > Ap.Arg156His23.062537.20
 F3–00625c.1112 T > Ap.Ile371Asn9.0u.a.37.05
 F3–01035c.572_589delp.Pro191_Pro196del16.0u.a.37.00
 F3–01131c.659_676delp.Pro220_Pro225del17.085037.20
 F3–02131c.1072C > Tp.Gln358X22.082537.05
 F3–02421c.546_581del36p.Asn185_Pro196del55.077537.35
 Average29.67  23.67768.7537.14
 SD5.61  16.15100.780.13
  1. Abbreviations: SD standard deviation