Table 1

Clinical symptoms of patients with structural abnormalities affecting CTNND2

Patient 1Patient 2Patient 3
Decipher IDN/AN/A275504
Age at last evaluation29 years68 years14 years
Measurements at last evaluationL: 166 cm (−0.25 SD)L: 163 cm (−0.75 SD)L: 175 cm (+1 SD)
W: 60 kg (+0.8 SD)
OFC: 58 cm (+2 SD)
CTNND2 mutationTranslocation breakpointTranslocation breakpointDeletion of exons 12–18; out of frame (hg19)
InheritanceMaternalNo informationMaternal
(mother mosaic)
Weeks of gestationTermNo informationTerm
Birth measurementsBW: 3520 g (M)
BL: 52 cm (+1 SD)
No informationNo information
Facial featuresNoneNoneLong and narrow face with flat malar regions
Down-slanted palpebral fissures
Bilateral ptosis
Mildly everted lower eyelids
Large and beaked nose with deviated septum
Small mouth with prominent lower lip
High palate
Crowded teeth
Developmental milestonesNormal motor milestones.
Late language development. Speech therapy was started at 3 years of age.
Normal motor milestones.No information
IQ13 years of school (went to special class grades 4–9).
Self-reported difficulties with reading.
WISC-III at age 17 years gave an uneven profile with the verbal result age appropriate and the non-verbal well below average (at the level of a 9-year-old).
Spent 2 years in 4th grade and 3 years in high school.
Self-reported difficulties with reading.
Good at learning to speak new languages
Mild intellectual disability.
Mainstream school from age 11–14 years with need of personal assistant.
Self reported difficulties with reading.
Learned to speak Swedish fluently after moving to Sweden at age 11 years.
WISC-IV at age 14 years 10 m gave an uneven profile with the lowest performance on non-verbal tests (at the level of an 8.5 year-old).
OccupationAt age 29 years, she works as a nanny at a day care centre, and plans to go back to university to become a preschool teacher.Retired. Worked for 40 years as a receptionist and handling of the cash register.N/A
Neurological manifestationsAttention deficitNonePervasive developmental disorder with difficulties with social-emotional behaviour and impulse control. Does not fulfil criteria for autism or autism spectrum disorder.
Other featuresMyopia (−3.75/−4; Glasses from grade one)
Normal body proportions
Myopia (−1.5/−1.5)
Normal body proportions
Marfanoid habitus
Broad hands with prominent metacarpo-phalangeal joints
Proximal inserted thumbs
Long fingers with joint laxity
Hyperextended proximal interphalangeal joints
Camptodactyly of distal interphalangeal joints
Broad feet with short and broad big toes
  • BL, birth length; BW, birth weight; L, length; OFC, occipital frontal circumference; W, weight; WISC, Wechsler Intelligence Scale for children.