Table 3 Clinical characteristics of DASS patients with LTBP3 mutations in our study and previous studies
From: Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections
Phenotype | Total | AD2002 | Patient 1/2/3/4 | Patient 5/6 | Patient 7/8 | Patient 9/10 | Patient 11 | Patient 12/13/14 | Patient 15 | Patient 16 | Patient 17/18/19 | Patient 20/21 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age (year) | 42 | 30/28/39/41 | 181/6//151/4 | 14/5 | 13/51/2 | 11 | 16/9/12 | 24 | 7 | 54/55/59 | 44/58 | |
Gender | M | M/M/F/F | F/F | F/F | F/M | M | F/F/M | F | F | M/F/F | M/F | |
Ethnic | Chinese | Pakistan | Emirati | Turkey | Caucasian French | Brazil | Pakistan | Thai | Indian | American | American | |
Family | TAAD_2002 | F1 | F2 | F3 | F4 | F5 | F6 | F7 | F8 | F9 | F10 | |
Dental anomalies | ||||||||||||
Tooth missing | 7/22 | + | +/+/+/+ | +/NA | NA/NA | NA/NA | NA | NA/NA/NA | − | + | NA/NA/NA | NA/NA |
Amelogenesis imperfecta | 15/22 | NA | NA/NA/NA/NA | NA/NA | +/+ | +/+ | + | +/+/+ | + | + | +/+/+ | +/+ |
Skeletal system | ||||||||||||
Short stature | 22/22 | + | +/+/+/+ | +/+ | +/+ | +/+ | + | +/+/+ | + | + | +/+/+ | +/+ |
Osteopenia | 7/22 | NA | −/−/−/− | NA/NA | +/+ | NA/NA | NA | +/+/+ | NA | − | −/−/+ | −/+ |
Brachydactyly | 5/22 | − | −/−/−/− | ±/± | NA/NA | +/+ | NA | NA/NA/NA | NA | + | NA/NA/NA | NA/NA |
Scoliosis | 15/22 | − | +/+/+/+ | +/+ | +/+ | NA/NA | + | +/+/+ | + | − | −/−/+ | −/+ |
Cervical/Lumbar vertebral body abnormality | 7/22 | + | −/−/−/− | +/+ | NA/NA | NA/NA | NA | +/+/+ | NA | + | NA/NA/NA | NA/NA |
Cardiovascular disease | ||||||||||||
TAAD | 5/22 | + | NA/NA/NA/NA | NA/NA | NA/NA | NA/NA | NA | NA/NA/NA | − | − | +/+/− | +/+ |
MVP | 5/22 | − | NA/NA/NA/NA | +/+ | N/ANA | NA/NA | NA | NA/NA/NA | ? | − | −/+/+ | −/+ |
LTBP3 mutations | c.1965del (p.Arg656Alafs*6); c.625dup (p.Leu209Profs*38) | c.2322 C>G (p.Tyr774*) | c.1858_1859insG (p.Cys620Trpfs*171) | c.2071_2084del (p.Tyr691Leufs*95) | c.421 C>T(p.Gln141*); c.1531+1G>T | c.2216_2217del (p.Gly739Alafs*7) | c.2356_2357del (p.Val786Trpfs*82) | c.1721-2 A>G | c.3153_3154del (p.Cys1051*); c.689_690del (p.Val230Alafs*16) | c.132del (p.Pro45Argfs*25); c.2248G>T (p.Glu750*) | c.2033_2041delinsCTT (p.Asn678_Gly681 delinsThrCys) | |
Zygosity | Compound heterozygous | Homozygous | Homozygous | Homozygous | Compound heterozygous | Homozygous | Homozygous | Homozygous | Compound heterozygous | Compound heterozygous | Homozygous | |
References | This study | Noor et al. (2009) [40] | Dugan et al. (2015) [7] | Huckert et al. (2015) [39] | Huckert et al. (2015) [39] | Huckert et al. (2015)[39] | Huckert et al. (2015)[39] | Intarak et al. (2019)[8] | Kaur et al. (2020)[41] | Guo et al. (2018)[10] | Guo et al. (2018)[10] | |