Summary of the patients with deletions affecting CTNND2
| Girirajan et al. 2013 (patient 12289.p1) | Patient 1 (decipher 284528) | Patient 2 (decipher 248402) | Patient 3 (decipher 269928) | Patient 4 (decipher 271234) | |
|---|---|---|---|---|---|
| Gender | N/A | Female | Female | Male | Male |
| deletion affecting CTNND2 | 93 kb deletion, exons 4–9 in-frame (hg18, chr5: 11398907-11491980) | 113 kb deletion, exons 4–7 out-of-frame (hg18, chr5: 11431816-11545236) | 413 kb deletion, exons 2–8 out-of-frame (hg19, chr5: 11349694-11763030) | 479 kb deletion, exons 1–3+5′UTR out-of-frame/haploinsufficiency (hg19, chr5: 11505316-11985200) | 154 kb deletion, exon 3 out-of-frame (hg19, chr5: 11432332-11587173) |
| Inheritance | De novo | De novo (parents had no specific features and had higher education) | Paternal (father had problems with concentration. He finished lower vocational technical school) | Maternal (mother had no specific features) | Maternal (mother had low normal intelligence) |
| Additional rare CNVs of coding region | N/A | – | – | 452 kb paternally inherited duplication encompassing WSB1 (hg19, chr17: 25403446-25854990) | – |
| Weeks of gestation | N/A | Term | 40 (C-section for breech position) | 37.5 | 42 |
| Birth measurements | N/A | BW: 3660 g (50th–90th centile), BL: 50 cm (50th–90th centile) and OFC: 35 cm (50th–90th centile) | BW: 4290 g (>97th centile), BL: 54 cm (75th–90th centile) | BW: 3700 g (75th–90th centile), BL: 51 cm (50th–75th centile), OFC : 36 cm (75th–90th centile) | BW: 4280 g (75th–90th centile) (1.2 SD) |
| Facial features | N/A | Deep set eyes, prominent cheeks, narrow eyebrows, short inner eye distance (ICD 2.7 cm, 2nd centile), deep, slightly backwards rotated ears, and a bulbous nose with prominent columella. She had mild clinodactyly of the fifth finger, which was present in the healthy brother too. | Open mouth, ptosis, downslanted palpebral fissures, anteverted nares, malar flattening, macrodontia, myopathic facies, short nose, abnormality of globe size | High arched palate | Pigmented nevus on right cheek, mild craniofacial dysmorphism with deep set eyes and prominent cheeks |
| Developmental milestones | N/A | Walking at 16 months, first words at 8–9 months, 3-word sentences at 18 months | Walking at 24 months, 2-word sentences at 36 months | Normal initial motor development, but fine motor problems, difficulties with social skills, delayed language | Unaided sitting at 12 months, walking at 36 months |
| IQ | N/A | WISC-IV at age 8-year IQ 77, with better language than nonverbal functions, the cognitive profile remained stable at follow-up | SON-R at age 4- year IQ 72 | The last WISC IV evaluation results were VCI=74, PRI=67, PSI=86, WMI=67 | Attends special school for children with both physical and intellectual disability. At 15 years has receptive and expressive language skills equivalent to 5 years old |
| Neurologic manifestations | Autism | Short attention span, poor executive functioning and impaired working memory, and immature social-emotional behaviour | Autism, mild intellectual disability, muscular hypotonia, nasal speech | Learning difficulties behavioural problems, diagnosis of autism spectrum disorder | Ataxic cerebral palsy was diagnosed at age 3 years. At 15 years, he had marked axial hypotonia with hyperreflexia, rigidity on passive movements of distal joints and difficulty in initiating movement. Recent unexplained loss of motor skills |
| MRI | N/A | N/A | N/A | N/A | New changes in internal capsule and basal ganglia at the age of 15 years |
| Latest measurements | N/A | At 10 years 4 months, her weight, height, and head circumference were 39.6 kg (93rd centile), 145.9 cm (96th centile) and 52 cm (46th centile), respectively. Father’s height was 189 cm and mother’s 169 cm. | At 11 years 5 months, her weight, height, and head circumference were 60 kg (+1.9 SDS), 167.6 cm (+2.3 SDS) and 55 cm (+0.9 SDS), respectively. Father’s height was 180 cm. | He was tall (+3 SD) with OFC=56 cm (+2.5 DS). Father’s height was 189 cm. Mother’s height was 160 cm. | Unable to obtain height as wheelchair bound. OFC at age of 16.4 years was 52.9 cm (−2.2 SD). |
| Other features | N/A | – | Hyperextensibility of the finger joints, slender finger, joint laxity, narrow foot, mild scoliosis, accelerated skeletal maturation, long phalanx of finger | Genu valgum | Delayed puberty |
BW, birth weight; BL, birth length; CNV, copy number variant; ICD, inner canthal distance; OFC, occipitofrontal circumference; WISC-IV, Wechsler Intelligence Scale for Children-IV.