Table 1 Previously described patients with TGFBR1 and TGFBR2 mosaicism. Three patients showed paternally inherited TGFBR2 in mosaicism, whereas our patient was a maternally inherited TGFBR1 mutation carrier
TGFBR2 | TGFBR1 | |||
|---|---|---|---|---|
Loeys et al., 2006 [5] | Watanabe et al., 2008 [6] | Campbell et al., 2011 [8] | Present report Past reported mutation by Mátyás et al., 2006 [2] | |
Molecular analysis | R537G | D446N | 3p24.1 microdeletion | R487Q |
Age at observation | unspecified | 5 years | 20 months | 7 years and 4 months |
Proband cardiovascular abnormalities | +(unspecified) | + | – | + |
Arterial tortuosity | ? | + | – | +, mainly intracranial |
Arterial aneurysm/ dilatation | ? | +, aortic root | – | +, severe aortic root |
Arterial hypoplasia | ? | +, bil. Subclavian and vertebral arteries | – | – |
Congenital heart defects | ? | +, VSD and BAV | – | – |
Proband craniofacial abnormalities | + (unspecified) | + | + mild | |
Hypertelorism | + | unspecified | – | |
enophthalmos | + | + | – | |
cleft palate/bifid uvula | + | unspecified | +bifid uvula | |
malar hypoplasia | + | unspecified | – | |
Other dysmorphic features | Microcephaly, overfolded superior ear helices | Macrosomia. Oculocutaneous albinism | ||
developmental delay | unspecified | + | – | |
Proband musculoskeletal abnormalities | unspecified | + | unspecified | + |
pes planus | + | + | ||
thumb camptodactyly | + | – | ||
joint laxity | + | + | ||
Others | Bilateral inguinal hernia | |||
Parent with mosaicism | Father | Father | Father | Mother |
Analysed tissue and percentage | Blood (unspecified %) | Blood (52%), buccal (25%), hair root (0%), nails (35%) | Blood lymphocytes and lymphoblasts (unspecified %) | Blood (18%), buccal (18%), hair root (10%) |
Parent cardiovascular abnormalities | + | -ve 1st level vascular investigations | unspecified | + |
Arterial abnormalities | aortic root replacement at age 45 yr) | – | Mild aortic dilatation, surgically repaired buccal artery for repeated hemorrhage | |
Others | – | myocardial inferobasal crypts and abnormal mitral and myocardial fibers distribution | ||
Parent craniofacial abnormalities | – | + | – | – |
Bifid uvula | – | + | – | – |
Jaw abnormalities | – | + | – | – |