Table 1 Phenotypic description of individuals with TRPC6 variantsa,b.
GENERAL INFORMATION | Participant ID | F2749-1 | 2-1280-003 | 3-0817-000 | 7-0089-003 | MSSNG00188-003 | MSSNG00070-003 | SSC04382 | iHART1937 | iHART1939 |
|---|---|---|---|---|---|---|---|---|---|---|
Date of Birth (DOB - MM/YY); | 07-2002 | 09-2008 | 10-2011 | 06-2007 | NA | NA | NA | NA | NA | |
Sex | Male | Female | Female | Female | Male | Male | Male | Male | Male | |
Genetic data | Variant genomic position [hg38] | t[3;11] [p21;q22] | g.101488935 A > G | g.101489024_101489026delinsGG | g.101504768_101504792dup | g.101491611dup | g.101583364delG | g.101583497 G > A | g.101489023delT | g.101489023delT |
cDNA variant | NA | c.1293 + 2 T > C | c.1204_1206delinsCC | c.177_201dup | c.1073dup | c.140delC | c.7 C > T | c.1207delA | c.1207delA | |
Protein change | NA | p.? | p.T402Pfs | p.R68fs | p.H358fs | p.P47Rfs*33 | p.Q3* | p.M403Wfs*33 | p.M403Wfs*33 | |
Inheritance | de novo | Maternal | Maternal | Paternal | Maternal | Unknown; not maternal | Paternal | Maternal | Maternal | |
gnomAD frequency | Not applied | 0 | 0 | 0 | 0.00000409 | 0 | 0.0000956 | 0.00000398 | 0.00000398 | |
Development | ASD evaluation | DSM-IV and CARS (severe autism) | ADI/ADOS | ADOS | ASD | ADI/ADOS | ASD | ASD | ADI-R | ASD by ADI-R |
Global Ability | Low | Average | NA | NA | NA | NA | NA | NA | NA | |
Intellectual disability; IQ | Yes (unable to learn how to read or to recognize numbers) | Wechsler; Average IQ (105 standard score) | NA | Yes | NA | NA | NA | NA | NA | |
Adaptive Behavior | NA | VABS; very low daily adaptive skills (74 standard score) | VABS; impaired; extremely low daily adaptive skills (69 standard score) | NA | NA | NA | NA | NA | NA | |
Socialization | Low | Extremely low (68 standard score) based on VABS | Extremely low (65 standard score) based on VABS | NA | NA | NA | NA | NA | NA | |
Age of walking | 18 months | 12 months | NA | NA | NA | NA | NA | NA | NA | |
Age of first words | Non-verbal | 45 months | NA | NA | NA | NA | NA | NA | NA | |
Development (continued) | Language ability | None | Average receptive vocabulary skills; low average overall language skills | Language skills limited; fall in very low range for communication; based on ADOS and VABS | NA | NA | NA | NA | NA | NA |
Behavioral issues | Repetitive behaviors, resistant to change routine | Repetitive behaviors, resistant to change | NA | NA | NA | NA | NA | NA | NA | |
Seizures/epilepsy | Yes | No | No | No | NA | NA | NA | NA | NA | |
Feeding issues | No | NA | NA | NA | NA | NA | NA | NA | ||
Other neuropsychiatric or neurodevelopmental disorder | Hyperactivity and anxiety behavior | NA | NA | Auditory Processing Disorder | NA | NA | NA | NA | NA | |
Other | Eye abnormalities/vision problems | No | NA | NA | NA | NA | NA | NA | NA | NA |
Ears/hearing loss | None | NA | NA | Sensorineural hearing loss | NA | NA | NA | NA | NA | |
Other Dysmorphologies/congenital abnormalities | None | NA | NA | Dysmorphic, unspecified | NA | NA | NA | NA | NA | |
Other genetic variants | Not identified in WES37 | Variant is also seen in unaffected brother | Additional mutation: 7p22.3, 506 kb DUP, including BRAT1, unknown origin | Not identified | Additional mutation: Xq13.3-q21.1, 9.4 Mb DUP including ABCB7, FGF16, ATRX, ATP7A, PGK1, TBX22, BRWD3, POU3F4; maternal | Not identified | Not identified | Variant is also seen in affected brother | Variant is also seen in affected brother | |
Family history | No family history among 1st related relatives | NA | Family history of ASD, ADHD, depression and learning disability | Family history of diabetes, and schizophrenia | NA | NA | NA | NA | NA | |
Source | Griesi-Oliveira et al. 37 | MSSNG21 | MSSNG21 | MSSNG21 | MSSNG21 | MSSNG21 | Griesi-Oliveira et al. 37 | Ruzzo et al.104 | Ruzzo et al.104 |
