Table 1.

Clinical Characteristics of Affected Individuals and Parents Heterozygous for the PEX6 c.2578C>T (p.Arg860Trp) Variant

	P1a	P2	Half-Brother of P2	Mother of P2	P3b	P4c	Father of P4	P5	P6	P7	Mother of P7
Subject Characteristics
Gender	male	male	male	female	male	male	male	male	female	male	female
Country of origin	the Netherlands	USA	USA	USA	Spain	Sweden	Sweden	Australia	USA	the Netherlands	the Netherlands
Year of birth	2009	1984	1980	1963	2009	2005	1979	2010	1984	2015	1993
Age at diagnosis	4 yo	at birth	4 yo	N/A	1 yo	6 yo	N/A	3 yo	2 yo	1 yo	N/A
Age at death	N/A	8 yo	11 yo	N/A	N/A	10 yo	N/A	N/A	20 yo	N/A	N/A
Neurological
Hypotonia	+	+	+	−	+	−	−	+	+	+	−
Gait abnormalities	+	+	+	−	+	+	−	+	+	−	−
Developmental delay	+	+	+	−	+	+	−	+	+	−	−
Intellectual disability	+	ND	+	−	+	+	−	−	+	−	−
Neuropathy	+	+	+	ND	+	+	−	ND	ND	−	−
White matter abnormalities	+	ND	+	ND	+	+	−	+	ND	+	ND
Sensory
Vision	−	+	+	ND	+	ND	−	−	+	ND	−
Hearing	+	ND	ND	ND	+	ND	−	+	ND	−	−
Other
Hepatomegaly / liver dysfunction	−	+	+	ND	+	ND	−	+	+	+	−
Adrenal insufficiency	−	ND	ND	ND	+	ND	−	−	ND	−	−

+, defect present; −, no abnormalities; yo, years old; N/A, not applicable; ND, no data.

^aIndividual P1 additionally displays recurrent calcium oxalate kidney stones from age 7 onwards.

^bIndividual P3 additionally displays cardiac malformation (atrial septal defect, multi-perforated foramen ovale type).

^cIndividual P4 was diagnosed with partial trisomy 18 (SNP array 250k, 18p 0-3423586, hg18, spanning 18p11.32 and parts of 18p11.31).