Fig. 2 | Nature Communications

Fig. 2

From: Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Fig. 2The alternative text for this image may have been generated using AI.

Location distribution and transmission pattern of TANC2 mutations. a A protein domain graph (DOG) plot shows the positions of the 16 LGD (above) and 5 missense (bottom) mutations in TANC2. The annotated and predicted domains in TANC2 are presented. A potential missense cluster is identified at the carboxy terminus of the ATPase domain. b Microdeletions identified in four patients (PI.p1, DU.p1, CF.p1, CF.p2) from this study and one patient (322959) in the DECIPHER database. CF.p1 and CF.p2 are affected siblings as noted in c. c Pedigree plot of the five families with transmitted disruptive variants. The carrier father in family SS2 has been diagnosed with behavioral and neuropsychiatric disorders, including bipolar disorder, ADHD, PTSD, and social issues reflected by the adult SRS score. The carrier mother in family GU has ID and experienced seizures, motor delay, and learning difficulties in school especially during her teenage years. The carrier father in family NN2 is suspected to have ID and has a psychiatric disorder history. The carrier father from the family CF experienced delayed motor development, learning difficulties in school, and also suspected to have ID. No clinical assessment of detailed developmental or neuropsychiatric history was possible for carrier father in family TI

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