Table 3 Open in new tab Clinical...

Table 3

Clinical phenotypes of the four PNKD probands and mutations

n	Ethnicity	Age at onset/current age	Sex	Phenotypic description	Family history	Family members tested for segregation	Genetics	Previously reported (reference)
69	German	Teens/20s	3F 3M	PKD	Four generation large family	Yes	p.A7V	Lee et al., 2004; Rainier et al., 2004
70	British	16/32	2M 2F	PNKD with atypical features	Yes, father, paternal uncle and grandmother	Yes	p.A9V	Lee et al., 2004; Rainier et al., 2004
71	British	8-22/20-64	17M 10F	PNKD	Several affected over three generations	Yes	p.A9V	Lee et al., 2004; Rainier et al., 2004
72	British	30-34/44-78	2M 1F	Familial hemiplegic migraine	Father, great-uncle and proband over three generations	Yes	c.1022delC p.Pro341fs	No

n	Ethnicity	Age at onset/current age	Sex	Phenotypic description	Family history	Family members tested for segregation	Genetics	Previously reported (reference)
69	German	Teens/20s	3F 3M	PKD	Four generation large family	Yes	p.A7V	Lee et al., 2004; Rainier et al., 2004
70	British	16/32	2M 2F	PNKD with atypical features	Yes, father, paternal uncle and grandmother	Yes	p.A9V	Lee et al., 2004; Rainier et al., 2004
71	British	8-22/20-64	17M 10F	PNKD	Several affected over three generations	Yes	p.A9V	Lee et al., 2004; Rainier et al., 2004
72	British	30-34/44-78	2M 1F	Familial hemiplegic migraine	Father, great-uncle and proband over three generations	Yes	c.1022delC p.Pro341fs	No