Table 2.

Genetic, Biochemical and Clinical Investigation Results in PEX11B Patients

Family	PEX11B Mutation(s)	ExAC Frequency	Autozygous Regions	Biochemical Profile	Other Investigations (Result)
I	c.235C>T p.(Arg79Ter) hom	–	Chr1: 115,634,100–158,295,100 (42.7 Mb); Chr5: 33,529,100–93,624,300 (60.1 Mb); Chr17: 78,782,220–81,039,680 (2.3 Mb); Chr19: 24,027,080–28,497,590 (4.5 Mb)	(I.1) FBC: normal; WBC: normal; U&Es: normal; CKs: normal; LFTs: normal; Igs: normal (I.2) VCFLA (μmol/L): C26 = 3.01, C24/C22 = 0.84, C26/C22 = 0.028; phytanic acid: normal; pristanic acid: normal; plasmalogens: C16 DMA 0.8% (very low), C18 DMA 1.5% (very low)	Skeletal survey: abnormal; ERG: normal; VEP: normal; IOP: normal; fundus exam: normal –
II	c.136C>T p.(Arg46Ter)	8.241e-06	–	(II.1) VCFLA: C26:0 = 0.548, C24/C22 = 1.213, C26/C22 = 0.03; phytanic acid: normal; pristanic acid: normal	(II.1) MRI: normal; karyotype: normal
III	c.595C>T p.(Arg199Ter) het; Exon 1–3 del het	–; –	–	(III.1) VLCFA: normal; LFTs: normal; U&Es: normal	(III.1) ECG: bisynchronous discharges; brain CT: normal; brain MRI: normal; aCGH: normal; skeletal survey: delayed bone age (III.2) Brain MRI: normal

VCFLA: C26 normal range (μmol/L) = 0.3–4.0; C26:0 normal range = 0.45–1.32; C24/C22 normal range = 0.57–0.92; C26/C22 normal range = 0.003–0.02. Plasmalogens: C16 DMA normal range = 3%–15%; C18 DMA normal range = 3%–21%. aCGH, array comparative genomic hybridization; Chr, chromosome; CKs, creatine kinase levels; del, deletion; ERG, electroretinogram; FBC, full blood count; het, heterozygous; hom, homozygous; Igs, immunoglobulins; IOP, intraocular pressure; LFTs, liver function tests; N.A., not available; U&Es, urea and electrolytes; VEP, visual evoked potentials; WBC, white blood cell count.