Table 1.
Clinical and molecular genetics data of 8p microdeleted patients described in the present work and in the literature.
| Present Work Patients | Literature Patients | ||||||||||||
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Shi et al., 2017 [7] | Burnside et al., 2013 pt1 [9] | Burnside et al., 2013 pt2 [9] | Chien et al., 2010 [10] | Wu et al., 2010 [11] | Total Number of Patients | |
| Age at diagnosis | 13 | 4 | 16 | 2 | 13 | 38 | 12 | 5 | 2 | 4 | 12 | 1 | |
| Sex | M | M | M | M | M | M | F | M | F | M | M | F | |
| Coordinates (GRCh37/hg19) | chr8:176475-1892812 | chr8:191530-2308985 | chr8:221611-4767606 | chr8:1531691-1603483 | chr8:1731454-3846288 | chr8:1731454-1853939 | chr8:1774139-1857463 | chr8:158048-6004205 | chr8:1- 3623904 | chr8:1-4832134 | chr8:1-2400000 | chr8:21000-2067000 | |
| Size | 1.72 Mb | 2.12 Mb | 4.55 Mb | 71.79 kb | 2.1 Mb | 123 kb | 83.33 kb | 6.0 Mb | 3.6 Mb | 4.8 Mb | 2.4 Mb | 2.1 Mb | |
| Inheritance | Maternal | de novo | de novo | paternal (father with learning disability and stuttering) |
inherited (present in the unaffected brother) |
de novo | de novo | de novo | |||||
| Coding gene(s) content |
ORF4F21, ZNF596, FBXO25, TDRP, ERICH1, DLGAP2, CLN8, ARHGEF10 |
ORF4F21, ZNF596, FBXO25, TDRP, ERICH1, DLGAP2, CLN8, ARHGEF10, KBTBD11, MYOM2 |
FBXO25, TDRP, ERICH1, DLGAP2, CLN8, ARHGEF10, KBTBD11, MYOM2, CSMD1 |
DLGAP2 | CLN8, ARHGEF10, KBTBD11, MYOM2, CSMD1 | CLN8, ARHGEF10 | ARHGEF10 |
ORF4F21, ZNF596, FBXO25, TDRP, ERICH1, DLGAP2, CLN8, ARHGEF10, KBTBD11, MYOM2, CSMD1 |
ORF4F21, ZNF596, FBXO25, TDRP, ERICH1, DLGAP2, CLN8, ARHGEF10, KBTBD11, MYOM2, CSMD1 | ORF4F21, ZNF596, FBXO25, TDRP, ERICH1, DLGAP2, CLN8, ARHGEF10, KBTBD11, MYOM2, CSMD1 |
ORF4F21, ZNF596, FBXO25, TDRP, ERICH1, DLGAP2, CLN8, ARHGEF10, KBTBD11, MYOM2 |
ORF4F21, ZNF596, FBXO25, TDRP, ERICH1, DLGAP2, CLN8, ARHGEF10, KBTBD11, MYOM2 | |
| ID | mild ID | mild ID | mild DD at 3y. IQ = 91 at 13y |
+ | + | + | 6/12 | ||||||
| DD | + | - | - | + | + | + | + | + | + | + | + | 9/12 | |
| Language and speech delay | + | + | + | + | + | - | + | 6/12 | |||||
| Motor impairment | Motor instability, dyspraxia | Motor instability, balance/coordination problems, limb hypotonia | − | Fine and gross coordination problems | Balanced/coordination problems | Balanced/coordination problems | 5/12 | ||||||
| ASD | + | + | + | − | + | − | − | + | 5/12 | ||||
| Behavioral abnormalities/ ADHD |
Hyperkinetic behavior, irritability | Hyperkinetic behavior, ADHD | Hyperactivity, aggressiveness, impulsiveness, stereotype behavior | Hyperkinetic behavior, hyperactivity, attention deficit, aggressiveness | ADHD | − | − | ADHD | 6/12 | ||||
| Microcephaly | + | − | + | Microcephaly, brachycephaly | + | − | + | 5/12 | |||||
| Fingers/ toes anomalies |
Shortened 4th toe of left foot, bilateral broad 1st toe, finger hyperlaxity | Bilateral clinodactyly of the 5th finger | Nail hypoplasia | 3/12 | |||||||||
| Dysmophisms | + (not specified) |
− | Bitemporal narrowing, hypotelorism, prograthism, premature graying of hair | − | Low-set ears, narrow palpebral fissures, thin vermillion of the upper lip | − | low-set ears with bilateral prominence of the antitragus, epicanthal folds and a long philtrum |
Mild maxillary, flattening medial epicanthal folds with upslanting palpebral fissures, preauricular pit and bilateral prominence of the antitragus |
Palpable metopic ridge, upslanting palpebral, fissures, nystagmus, aniridia, low-set and posteriorly rotated ears with overfolded helices, small upturned nose, and downturned corners of the mouth |
− | Hypertelorism, long philtrum, malformed ears |
7/12 | |
| Epilepsy | − | − | + | + | + | 3/12 | |||||||
| Other | Myopia, strabismus, skeletal anomalies | Xerosis cutis, skin anomalies, mild hepatomegaly, cerebral parenchymal anomalies | Short stature, eutrophic skin, | Hippocampal anomalies, heart anomalies | Perinatal distress, jaundice, flat feet, frequent respiratory infections | Scoliosis | Emmetropia, scoliosis, horshoe kidney, hypereosinophily, teeth cavities, hypotyroidism | Coartaction of the aorta | |||||
| Other CNVs (GRCh37/ hg19)/ additional genetic data |
5p15.2 microdeletion coordinates 12260192-12849583 (maternal) |
45,XY,-8[8]/ 46,XY,r(8)(p23.2q24.3)[42] |
Absence of mutations in CLN8 coding sequence on the other allele | 6q26 deletion coordinates 163274414-163399757 |
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The information for each patient includes: age at diagnosis, sex, 8p microdeletion coordinates (Assembly GRCh37/hg19), microdeletion size, inheritance, gene content, clinical features and other additional genetic/genomic data. The number of patients showing a clinical feature compared to the total number of patients (present work and literature patients) is indicated in the last column. Main candidate genes are displayed in bold characters. “+” means present; “−” means absent; empty cells: data not available. ADHD: attention deficit and hyperactive disorder; ASD: autism spectrum disorders; chr: chromosome; CNV: copy number variant; DD: developmental delay; ID: intellectual disability; IQ: intelligence quotient; y: years.