Table 2.
Genes involved in the rearrangements and their associated phenotypes
| Case | Age | Structural anomaly | Genes involved | OMIM associated genes a | Likely pathogenic genes (haploinsufficiency) | Patient’s features corresponding to the pathogenic genes |
|---|---|---|---|---|---|---|
| 1 | del 10q26.13q26.3 | 76 | 3 (AR) | - | ||
| 4 yrs | dup 12q24.31q24.33 | 54 | 1 (ADdn) | - | ||
| 3 (AR) | ||||||
| 2 | 10 yrs | del 11q24.3q25 | 29 | 1 (ADdn) | - | |
| 4 (AR) | ||||||
| dup 20q13.3 | 90 | 7 (ADh) | - | |||
| 3 | 6 yrs | del 9p24.3p23 | 29 | 1 (ADdn) | SLC1A1 (susceptibility to schizophrenia and psychotic disorder) | Patient too young to verify symptoms |
| 4 (AR) | SMARCA2 (Nicolaides-Baraitser synd.; dominant negative) | Intellectual disability, delayed speech, psychomotor development stooped posture and seizures | ||||
| 1 (AD) | DOCK8 (Intellectual disability) | Intellectual disability | ||||
| dup 4q34.1q35.2 | 53 | 9 (AR) | CCDC111 (susceptibility to high myopia) | Patient too young to verify symptoms | ||
| dup 14q21.1 | Gene desert | - | ||||
| 4 | 15 yrs | del 10p15.3p13 | 73 | 3 (ADh) | GATA3 (hypoparathyroidism, sensorineural deafness, and renal insufficiency) | Congenital hypoparathyroidism, deafness and renal disease |
| 1 (AR) | AKR1C4 (46XY sex reversal) | Cryptorchidism, hypospadia | ||||
| DHTKD1 (Charcot-Marie-Tooth type 2Q) | Patient too young to verify symptoms | |||||
| dup 12q24.31q24.33 | 108 | 1 (ADh) | P2RX2 (hearing loss) | May duplication affect hearing ability? | ||
| 1 (ADdn) | ||||||
| 9 (AR) | ||||||
| 5 | TOP | del 15q26.1q26.3 | 30 | 4 (ADh) | CHD2 (Childhood onset encephalopathy) | - |
| NR2F2 (Heart defects) | Ventricular septal defect | |||||
| 7 (AR) | IGF1R (Growth retardation) | IntraUterine Growth Retardation Heart malformation? | ||||
| dup 3q27.1q29 | 114 | 4 (ADh) | MEF2A (Coronary artery disease) | May duplication cause limb anomalies? | ||
| 1 (AD?) | TP63 (Heterodactily, ectodermal dysplasia, cleft lip palate syndrome 3) | |||||
| 9 (AR) | ||||||
| 6 | 1 yr | del 2p12p11.2 | 1 | 1 (AR) | ||
| del 15q11.1q14 | 60 | 5 (AR) | NPIA1 (Spastic paraplegia) | Patient too young to verify symptoms | ||
| MKRN3 (Precocious puberty) | Patient too young to verify symptoms | |||||
| MAGEL2 (Prader-Willy like, imprinted) | Maternally inherited deletion | |||||
| 7 (ADh) | NDN, SNRP, UBE3A (Angelman/Prader-Willy, imprinted) | Angelman features (maternally inherited deletion) | ||||
| CHRNA7 (15q13.3 syndrome) | Myoclonic seizures | |||||
| dup 14q11.2q12 | 60 | 4 ADh | ANG (Amyotrophic lateral sclerosis) | Patient too young to verify symptoms | ||
| 1 (ADgain) | CHD8 (Autism) | Duplication may be associated with psychomotor developmental delay | ||||
| 2 (AD?) | MYO6 (Atrial septal defect) | Pervious foramen ovale | ||||
| 6 (AR) | FOXG1 (Rett-like syndrome) | Duplication may be associated with neurocognitive impairment | ||||
| del 11q24.1q25 | 58 | 3 (ADh) | SCN3B (Brugada syndrome) | - | ||
| 7 | TOP | 1 (AD?) | CDON (Holoprosencephaly type 11) | Brain malformation | ||
| 10 (AR) | KIRREL3 (Intellectual disability) | - | ||||
| dup 7p22.3p22.2 | 42 | 4 (AR) | - |
Notes: aAR: autosomal recessive; ADdn: autosomal dominant, dominant negative effect; ADh: autosomal dominant, haploinsufficiency; AD?: autosomal dominant, unknown effect; ADgain: autosomal dominant with gain of function. TOP: Termination of Pregnancy.