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

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

Code	Age at enrolment (months)	EDA variant	Changes at the amino acid level	Pilocarpine-induced sweat volume (μL)	Sweat pores/cm² (plantar)	Body temperature (°C; average of independent measurements)
Male subjects
M3–001	17	c.608C > T	p.Pro203Leu	0.0	22.2	37.15
M3–002	35	c.467_468del	p.Arg156GlnfsX2	0.0	1.4	36.90
M3–003	35	c.467G > A	p.Arg156His	0.0	0.0	36.95
M3–005	27	c.1075A > T	p.Lys359X	0.0	0.0	37.25
M3–007	24	c.463C > T	p.Arg155Cys	0.0	5.6	37.10
M3–008	11	c.1133C > T	p.Thr378Met	0.0	0.0	36.90
M3–009	33	c.1141G > C	p.Gly381Arg	0.0	0.0	37.15
M3–012	22	c.467G > A	p.Arg156His	0.0	0.0	37.15
M3–013	27	c.376_379del	p.Asp126ProfsX10	0.0	2.8	36.85
M3–014	33	c.793G > T	splice-site alteration	0.0	0.0	37.20
M3–015	17	c.925-3C > G	splice-site alteration	0.0	0.0	36.95
M3–016	21	c.502 + 1G > A	splice-site alteration	0.0	8.3	37.35
M3–017	28	c.463C > T	p.Arg155Cys	0.0	13.9	37.05
M3–018	29	c.467G > A	p.Arg156His	0.0	0.0	37.00
M3–019	26		duplication of exons 3–8	0.0	41.7	36.90
M3–020	31	c.1072C > T	p.Gln358X	0.0	0.0	36.50
M3–022	28	c.911A > G	p.Tyr304Cys	0.0	0.0	36.80
M3–023	17	c.648_665del18	p.Pro216_Gly221del	0.0	0.0	36.65
M3–025	26	c.1133C > T	p.Thr378Met	0.0	0.0	37.05
Average	25.63	/	/	0.00	5.05	36.99
SD	6.73	/	/	0.00	10.67	0.21
Female subjects
F3–004	35	c.467G > A	p.Arg156His	23.0	625	37.20
F3–006	25	c.1112 T > A	p.Ile371Asn	9.0	u.a.	37.05
F3–010	35	c.572_589del	p.Pro191_Pro196del	16.0	u.a.	37.00
F3–011	31	c.659_676del	p.Pro220_Pro225del	17.0	850	37.20
F3–021	31	c.1072C > T	p.Gln358X	22.0	825	37.05
F3–024	21	c.546_581del36	p.Asn185_Pro196del	55.0	775	37.35
Average	29.67			23.67	768.75	37.14
SD	5.61			16.15	100.78	0.13

ISSN: 1750-1172