Table 1.

Summary of Predicted Deleterious Mutations Identified in Cohort of ZSS-PBD Patients

		1st mutationb			2nd mutation			Other mutationsc
Diagnosisa	Patient ID	Exon	Coding	Protein	Exon	Coding	Protein	Gene	Exon	Coding	Protein
PEX1	674	Intron 4	c.473−1G>A		Intron 4	c.473−1G>A
	701	Intron 5	c.1240+1G>T		10	c.1714_1715delCA	p.H572fs
	719	5	c.547C>T	p.R183X	23	c.3732_3736dupCATTA	p.S1246fs
	715	10	c.1769T>G	p.L590R	10	c.1769T>G	p.L590R
	627	23	c.3710C>A	p.A1237E	23	c.3710C>A	p.A1237E
	707	2	c.270delA	p.Q91fs	15	c.2528G>A	p.G843D
	651	5	c.547C>T	p.R183X	15	c.2537_2545del9insTCATGGT	p.H846fs
	662	5	c.643_647delACCAA	p.T215fs	13	c.2097_2098insT	p.I700fs
	611	5	c.782_783delAA	p.Q261fs	13	c.2097_2098insT	p.I700fs
	640	5	c.782_783delAA	p.Q261fs	15	c.2528G>A	p.G843D
	649	10	c.1714_1715delCA	p.H572fs	13	c.2097_2098insT	p.I700fs	PEX12	1	c.102A>T	p.R34S
	638	10	c.1714_1715delCA	p.H572fs	15	c.2528G>A	p.G843D
	716	11	c.1840delA	p.E615fs	15	c.2528G>A	p.G843D
	610	Intron 11	c.1900+2T>C		13	c.2097_2098insT	p.I700fs
	601	13	c.2097_2098insT	p.I700fs	Intron 21	c.3438+2T>C
	660	13	c.2097_2098insT	p.I700fs	23	c.3693_3696delGTCA	p.Q1231fs
	717	10	c.1777G>A	p.G593R	12	c.1952_1960dupCAGTGTGGA	p.W653_M654insTVW
	712	13	c.2097_2098insT	p.I700fs	15	c.2528G>A	p.G843D
	635	14	c.2392C>G	p.R798G	Intron 18	c.2926+1G>A
	672	15	c.2528G>A	p.G843D	16	c.2614C>T	p.R872X	PEX6	8	c.1802G>A	p.R601Q
	606	15	c.2528G>A	p.G843D	19	c. 2992C>T	p.R998X
	602	13	c.2097_2098insT	p.I700fs	13	c.2097_2098insT	p.I700fs
	608	13	c.2097_2098insT	p.I700fs	15	c.2528G>A	p.G843D
	646	13	c.2097_2098insT	p.I700fs	15	c.2528G>A	p.G843D
	671	13	c.2097_2098insT	p.I700fs	18	c.2916delA	p.G973fs
	702	13	c.2097_2098insT	p.I700fs	18	c.2916delA	p.G973fs
	605	15	c.2528G>A	p.G843D	15	c.2528G>A	p.G843D
	708	15	c.2528G>A	p.G843D	18	c.2916delA	p.G973fs
	616	15	c.2528G>A	p.G843D	19	c.3022_3024delCCT	p.P1008del
PEX6	710	2	c.914delA	p.D305fs	Intron 9	c.1962−1G>A		PEX6	7	c.1646C>T	p.A549V
	609	8	c.1802G>A	p.R601Q	14	c.2546A>C	p.N849T
	704d	8	c.1802G>A	p.R601Q	14	c.2579G>A	p.R860Q	PEX12	Intron 2	c.681−2A>C
	713	8	c.1802G>A	p.R601Q	14	c.2579G>A	p.R860Q
	636	Intron 1	c.882+1G>A		1	c.821C>T	p.P274L
	720	14	c.2578C>T	p.R860W	---	---	---
PEX10	603	1	c.4delG	p.A2fs	5	c.835G>T	p.E279X
	652	4	c.704_705insA	p.L236fs	4	c.730C>T	p.R244X
PEX12	669	2	c.531_533delACA	p.Q178del	2	c.531_533delACA	p.Q178del
	633	2	c.541_542insT	p.Y181fs	3	c.730_733dupGCCT	p.L245fs
	607	3	c.887_888delTC	p.L296fs	3	c.887_888delTC	p.L296fs
	673	3	c.959C>T	p.S320F	3	c.959C>T	p.S320F
	644	3	c.1047_1049delACA	p.Q349del	3	c.887delT	p.L296fs
	650	3	c.887_888delTC	p.L296fs
PEX26	604e	3	c.292C>T	p.R98W	3	c.292C>T	p.R98W	PEX1	18	c.2843G>A	p.R948Q
	714	2	c.192_216del	p.S64fs	3	c.353C>G	p.P118R
	632	2	c.37_38delAG	p.R13fs	Intron 3	c.667+2T>C
	634	3	c.292C>T	p.R98W	4	c.574C>T	p.R192X
	676	3	c.296G>A	p.W99X	3	c.296G>A	p.W99X

^aIn cases where only one deleterious PEX gene allele was found, we assigned this gene as disease-causing even though it is formally possible that another gene is causative of disease. The GenBank reference numbers for each PEX gene were as follows: PEX1 (NM_000466.2), PEX6 (NM_000287.2), PEX10 (NM_002617.3), PEX12 (NM_000286.1), and PEX26 (AB089678.1).

^bNovel unreported variants are shown in red. Variants previously not found in these samples, but reported in other datasets are shown in black. Variants previously found in these samples via the PEX Gene Screen are shown in blue. Samples are ordered based on the number of novel deleterious variants uncovered and sub-grouped based on the number of novel alleles discovered in our study. Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence, according to journal guidelines. The initiation codon is codon 1.

^cAll missense changes occur in amino acids conserved in human, rhesus macaque, mouse, and rat orthologs.

^dIndividual listed has defective PEX6 function via genetic complementation analysis.

^eIndividual listed has defective PEX26 function via genetic complementation analysis.