Table 2

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)
GenderN/A FemaleFemaleMaleMale
deletion affecting CTNND293 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)
InheritanceDe novoDe 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 regionN/A452 kb paternally inherited duplication encompassing WSB1 (hg19, chr17: 25403446-25854990)
Weeks of gestationN/ATerm40 (C-section for breech position)37.542
Birth measurementsN/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 featuresN/ADeep 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 sizeHigh arched palatePigmented nevus on right cheek, mild craniofacial dysmorphism with deep set eyes and prominent cheeks
Developmental milestonesN/AWalking at 16 months, first words at 8–9 months, 3-word sentences at 18 monthsWalking at 24 months, 2-word sentences at 36 monthsNormal initial motor development, but fine motor problems, difficulties with social skills, delayed languageUnaided sitting at 12 months, walking at 36 months
IQN/AWISC-IV at age 8-year IQ 77, with better language than nonverbal functions, the cognitive profile remained stable at follow-upSON-R at age 4- year IQ 72The last WISC IV evaluation results were VCI=74, PRI=67, PSI=86, WMI=67Attends 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 manifestationsAutismShort attention span, poor executive functioning and impaired working memory, and immature social-emotional behaviourAutism, mild intellectual disability, muscular hypotonia, nasal speechLearning difficulties behavioural problems, diagnosis of autism spectrum disorderAtaxic 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 
MRIN/AN/AN/AN/ANew changes in internal capsule and basal ganglia at the age of 15 years
Latest measurementsN/AAt 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 featuresN/AHyperextensibility of the finger joints, slender finger, joint laxity, narrow foot, mild scoliosis, accelerated skeletal maturation, long phalanx of fingerGenu valgumDelayed 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.