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Table 1 Patient characteristics and peroxisomal test results

From: The neurology of rhizomelic chondrodysplasia punctata

Patient Disease severity Genotype mutations, cDNA % C16:0DMA/C16:0♦ (normal 6.8–11.9) % C18:0DMA/C18:0 ♦ (normal 10.6–24.9) Phytanic acid♦ (normal <10 umol/l) Age (mo) cataract extraction Best developmental performance Ages (mo) at MRI and findings Remarks
1 Severe PEX 7:c [875 T > A]; [875 T > A] nd nd 10 7 Smiles responsively, no intentional movement, gastrostomy fed 24: Wide extra cerebral liquor spaces; ventricular enlargement; cerebellar atrophy; abnormal white matter signal intensity. Ref [6] pt 1
† 4 yrs 11/12
2 Severe PEX 7:c [875 T > A]; [875 T > A] 1.2 0.5 6.4 3 Smiles responsively, spontaneous movement of fingers, bottle/spoon fed 23 and 48: Delayed myelination, abnormal white matter signal intensity; cerebellar atrophy. Cervical stenosis. Ref [6] pt 2.
3 Severe PEX 7:c [875 T > A]; [875 T > A] 0 0 12.4 3 Smiles responsively, turns from back to belly, gastrostomy fed 10, 22 and 60: Delayed myelination; abnormal white matter signal intensity; progressive cerebellar atrophy. Narrow cervical canal. Ref [6] pt 3.
4 Severe PEX 7:c [875 T > A]; [875 T > A] 0.2 0.2 4.4 3 Smiles responsively, no intentional movement, gastrostomy fed 2 and 16: Delayed myelination; abnormal white signal intensity; cerebellar atrophy; progressive ventricular enlargement. Progressive narrowing thoracic spinal canal. Ref [6] pt 5.
† 1 yr 5/12
5 Severe PEX 7:c [875 T > A];? 1.6 2.9 25.2 5 Smiles responsively, vocalizes, spontaneous movement of fingers, gastrostomy fed 10, 27 and 48: Delayed myelination; abnormal white signal intensity; cerebellar atrophy; progressive ventricular enlargement. Cervical stenosis. Ref [6] pt 4.
6 Severe PEX 7:c [875 T > A]; [875 T > A] 0.6 0.2 9.1 3 Smiles responsively, vocalizes, no intentional movement, bottle/spoon/gastrostomy fed 3 and 14: Ventricular enlargement; frontal hygroma; delayed myelination; abnormal white matter signal intensity; cerebellar atrophy. Cervical canal stenosis. Ref [6] pt 8
† 3 yrs 8/12
7 Severe PEX 7:c [875 T > A]; [875 T > A] 0.2 0.1 6.2 35 Eye contact, No intentional movement, gastrostomy fed 1 week. Wide fissura Silvii, no other abnormalities.  
8 Severe PEX 7:c [875 T > A]; [649G > A] 0.2 0.4 7 5 Smiles responsively, vocalizes, scarce spontaneous movement, gastrostomy fed Not performed. † 3 yrs 2/12
9 Severe PEX 7:c [875 T > A]; [875 T > A] 1.7 1.4 25.3 11 Smiles responsively, no intentional movement, primarily tube fed 9 and 21: Delayed myelination; abnormal white matter signal intensity; ventricular enlargement; progressive cerebellar atrophy. Relatively narrow cervical canal. † 2 yrs 7/12
10 Severe PEX 7:c [875 T > A]; [875 T > A] 2.1 1.0 15 6 Responds to sounds, no intentional movement, primarly fed by gastrostomy Not performed. † 6 yrs 5/12
11 Severe PEX 7:c [875 T > A]; [875 T > A] 0 0 3.4 Not performed Smiles responsively, scarce spontaneous movement, primarily tube fed 4: Delayed myelination; wide extra cerebral liquor spaces. Ref [6] pt 6
† 7/12
12 Severe DHAPAT:c [924 + 5G > C]; [924 + 5G > C] 0.3 1.2 1.0 Infancy No intentional movement, gastric tube fed Not performed.  
13 Mild PEX 7:c [875 T > A];/[854A > G] 5.2 12.1 158.7 4 IQ < 50, walks short distances independently 84: Normal findings. Ref [6] pt 11
Diagnosis at age 4 yrs
14* Mild PEX 7:c [854A > G]; [854A > G] 2.4 6.5 154.1 5 IQ < 50, rides a tricycle 90: Normal findings. Diagnosis at age 6 yrs
15 Mild PEX 7:c [875 T > A];/? 4 8.5 8.9 24 Autistic features, IQ < 50, walks short distances independently 252: Normal findings. Ref [6] pt 9
Diagnosis at age 9 yrs
16 Mild PEX 7:c [875 T > A];/[854A > G] 4.2 6.8 1672 8 Walks short distances unsupported, rides a tricycle, verbal communication, (un)dresses herself 252: Normal findings supratentorial; narrow foramen magnum. Ref [6] pt 10
Ref [4]
Diagnosis at age 9 yrs
  1. ♦ Biochemical analysis at time of diagnosis. *Mildest patient in this cohort. Plasmalogens (C16:0DMA/C16:0 and C18:0DMA/C18:0%) measured in RBCs. Phytanic acid measured in plasma. ?: In two patients only one mutation in PEX7 was found. Mo: months, nd: not detectable.
  2. †: patient deceased.