Table 1 Genetic analysis results and characteristics of 11 truncus arteriosus patients
Patient number | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 | Patient 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|
Race | Japanese | Japanese | Japanese | Japanese | Japanese | Japanese | Japanese | Japanese | Japanese | Japanese | Japanese |
Gender | female | female | male | female | male | male | female | female | male | female | male |
Age | 3 months (deceased) | 11 years | 29 years | 16 years | 6 years | 21 months | 8 days | 3 years | 3 years | 25 years | 22 years |
Gene | TMEM260 | TMEM260 | TMEM260 | TMEM260 | TMEM260 | GATA6 | NOTCH1 | − | − | − | − |
Accession number | ENST00000261556.6 | ENST00000261556.6 | ENST00000261556.6 | ENST00000261556.6 | ENST00000261556.6 | ENST00000269216.3 | ENST00000651671.1 | ||||
Genomic coordinates (GRCh37/hg19) | chr14:57099780TG>T | chr14:57099780TG>T | chr14:57099780TG>T | chr14:57099780TG>T | chr14:57099780TG>T | chr18:19761478G>A | chr9:139417499C>T | − | − | − | − |
chr14:57099780TG>T | chr14:57099780TG>T | chr14:57099780TG>T | chr14:57052611C>CT | chr14:57114051C>T | |||||||
cDNA coordinates | c.[1617del];[1617del] | c.[1617del];[1617del] | c.1617del(;)(1617del) | c.332dup(;)1617del | c.[1617del];[1960C>T] | c.[1367G>A];[1367=] | c.[545G>A];[545=] | − | − | − | − |
Protein coordinates | p.[Trp539Cysfs*9];[Trp539Cysfs*9] | p.[Trp539Cysfs*9];[Trp539Cysfs*9] | p.Trp539Cysfs*9(;)Trp539Cysfs*9 | p.(Thr112Hisfs*36)(;)Trp539Cysfs*9 | p.[Trp539Cysfs*9];[(Gln654*)] | p.[(Arg456His)];[=] | p.[(Cys182Tyr)];[=] | − | − | − | − |
Number of tested individuals | trio | trio | solo | solo | duo (mother) | trio | trio | trio | septet (mother, 5 brothers) | quad (parents, a sisiter) | solo |
Inheritance | inherited | inherited | not provided | not provided | inherited | de novo | de novo | NA | NA | NA | NA |
Family history of CHD | older sister : TA (deceased) | − | − | − | − | − | − | − | younger sister : DORV | − | − |
Type of TA | |||||||||||
 Collett and Edwards classification | Type II | Type I | Type I | Type II | Type I | Type I | Type III | Type I | Type II | − | − |
 Van Praagh classification | Type A2 | Type A1 | Type A1 | Type A2 | Type A1 | Type A1 | - | Type A1 | Type A2 | Type A3 | Type A3 |
 Combined cardiovascular malformation | Cor triatriatum | RAA | PAPVR | − | PAPVR | − | − | IAA (typeB) | − | MAPCA | MAPCA |
CAF | PLSVC | ||||||||||
PAPVR | |||||||||||
PLSVC | |||||||||||
Heart condition | post palliative Rastelli procedure | post intracardiac repair | post intracardiac repair | post intracardiac repair | post intracardiac repair | post intracardiac repair | post bilateral PA banding | post intracardiac repair | post intracardiac repair | post intracardiac repair | post intracardiac repair |
Neurodevelopmental delay | NA | posthemorrhagic hydrocephalus | − | autism spectrum, ADHD | − | language developmental delay, dysplasia of cortical gyrus | NA | posthemorrhagic hydrocephalus | hyperactive tendency | − | − |
Renal failure | post palliative Rastelli procedure | − | − | − | − | − | − | − | − | − | − |
Oliguria | post palliative Rastelli procedure | − | − | − | − | − | − | − | − | − | − |
Elevated creatinine level (normal:0.2−0.9 mg/dl) | − | − | − | − | − | − | − | − | NA | − | − |
Proteinuria | − | − | − | − | − | NA | NA | − | − | NA | NA |
Other features | − | enuresis, myopia, amblyopia, hearing impairment | atlantoaxial rotatory fixation | − | hydronephrosis | shortening of the lingual pedicel, left migrating testis, left polydactyly | − | − | − | chronic headache | hearing impairment |
