Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.
BACKGROUND
Loeys-Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2).


METHODS
We report a 7-year-old Japanese boy with Loeys-Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P). He showed dysmorphic faces and skeletal malformations that were typical in previous cases with Loeys-Dietz syndrome. The cardiac studies disclosed the presence of markedly dilated aortic root and patent ductus aorteriosus. The cranial magnetic resonance imaging (MRI) and angiography (MRA) detected the tortuous appearances of the bilateral middle cerebral and carotid arteries.


CONCLUSIONS
This study depicts the systemic vascular phenotypes of a child with Loeys-Dietz syndrome that were caused by a novel heterozygous mutation of TGFR2. A large cohort with serial imaging studies for vascular phenotypes will be useful for delineating the genotype-phenotype correlations of Loeys-Dietz syndrome.
Kiyoshi
K
Uike
Yuki
Y
Matsushita
Department of Pediatrics, Kyushu University, Fukuoka 812-8582, Japan. ysakai22q13@gmail.com.
Yasunari
Y
Sakai
Osamu
O
Togao
Michinobu
M
Nagao
Yoshito
Y
Ishizaki
Hazumu
H
Nagata
Kenichiro
K
Yamamura
Hiroyuki
H
Torisu
Toshiro
T
Hara
D001158:Arteries / Q000002:abnormalities*; D002648:Child; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*
D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II