Table 1 b.
Previously published patients with PNH and pathogenic genomic imbalances identified in our overall PNH/CNV series study
| Patient ID | Age; gender | PNH type | Additional MRI abnormalities | Epilepsy: age onset; seizures type; outcome | Cognition | Clinical features | Genomic coordinates (hg19); size of the CNV | Inheritance | Previously published in: |
|---|---|---|---|---|---|---|---|---|---|
| #7; Fig. 1o, p, Supplementary Figure 1C | 18 y, 4 m; F | Bilateral, asymmetric multiple and contiguous nodules along the walls of both ventricles | White matter hyperintensities | No | Mild ID | Hypotonia, facial dysmorphisms, nevus in the dorsal region, syndactyly of 2nd–3rd fingers and toes, valgus knee | 46,XX,t(2;4)ins(2;4)(4qter-->4q28.3::2p12-- > 2qter;4pter-- > p15.31::p14-->4q24::2p12::4q24-->4q28.3::2p12-- > 2pter) g.[chr4:qter_(138565502_137875918)::chr2:(76090296_76279717)_(79702031_79871279)_(81867870_82019448)del_cen_qter] (der2) and g.[chr4:pter_(20487909_20490678)_(37919488_37929242)del_cen_(101100001_107700000)::chr2:(79702031_79871279)_(81867870_82019448)::chr4:(101100001_107700000)_(138565502_137875918)::chr2:(76090296_76279717)_pter](der4); 17.4 Mb | DN | [16] Patient LL |
| #8 | 8 y; F | Bilateral PNH | Dilated Virchow–Robin spaces, white matter hyperintensities | No | Mild ID | Joint laxity, facial dysmorphisms, severe bilateral sensorineural hearing loss | chr6:g.(pter_154130)_(1622218_1635408)del; 1.6 Mb | DN | [14] Patient 2 |
| #9 | 3 y; M | Multiple scattered and bilateral heterotopic nodules along the bodies of the lateral ventricles | Enlarged ventricles | 3 y; generalized; remission | Mild ID | Hypotonia, facial dysmorphisms, motor stereotypes, self-injurious behavior, sleep disturbances, ostium secundum | chr17:g.(16581147_16590775)_(20463302_20515050)del; 3.8 Mb | DN | [12] Patient 1 |
| #10 | 16 y; M | Bilateral symmetric nodules along the walls of the lateral ventricles | Mega cisterna magna | Neonatal seizures | Mild ID | Hyperactivity, sleep disturbances, self-injurious behavior | chr17:g.(16812122_16822742)_(20193110_20204871)del; 3.4 Mb | DN | [12] Patient 2 |
| #11 | 5 y; F | Bilateral and contiguous nodules in temporal and occipital horns | NA | 9 m; spasms; drug-resistant | Severe ID | Facial dysmorphisms, absent speech | chr5:g.(87005079_87050601)_(95512884_95536095)del; 8.4 Mb | DN | [13] Patient 2 |
| #12 | 13 y; M | Bilateral PNH in the temporal horns | Corpus callosum hypoplasia, colpocephaly, left perisylvian polymicrogyria | 1 y; focal; drug-resistant | Moderate ID | Hypotonia, facial dysmorphisms, strabismus | chr6:g.(162748288_162761498)_(170911181_qter)del; 8.2 Mb | DN | [9] Patient 2 |
| #13a | 6 y; M | Bilateral PNH in the temporal horns | Corpus callosum hypoplasia, colpocephaly, cerebellar hypoplasia | 16 m; focal | Mild ID | Facial dysmorphisms, clumsiness, strabismus, behavioral problems | chr6:g.(169643823_169653723)_(170591590_170609088)del; 0.9 Mb | Mat | [9] Patient 12 |
| #13b (mother of #13a) | 25 y; F | Bilateral PNH in the temporal horns | Corpus callosum hypoplasia, colpocephaly | 4 y; focal | Mild ID | Facial dysmorphisms, clumsiness, behavioral problems | chr6:g.(169643823_169653723)_(170591590_170609088)del; 0.9 Mb | NA | [9] Patient 11 |
The CNV coordinates are reported according to the HGVS nomenclature [38] and refer to GRCh37/hg19
CNV copy number variant, MRI magnetic resonance imaging, ID intellectual disability, DN de novo, NA not assessed, PNH periventricular nodular heterotopia, M male, F female, y year, m month