TITLE:
Prenatal Diagnosis of Abnormal Sternum Development and Dilated Aortic Root in a Fetus with a Novel 204 kb Microdeletion of the TGFRB2 Gene
AUTHORS:
Rebecca A. Feldman, Justin S. Brandt, Beverly Coleman, Michael T. Mennuti
KEYWORDS:
Loeys-Dietz Syndrome, Connective Tissue Disorders, Dilated Aortic Root, TGFBR1, TGFBR2
JOURNAL NAME:
Open Journal of Obstetrics and Gynecology,
Vol.6 No.10,
September
13,
2016
ABSTRACT: The
Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated
with vascular abnormalities, including aggressive aortic aneurysms, as well as
skeletal and craniofacial malformations. The molecular mechanism of this
syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman,
gravida 2 para 1, who was referred for consultation after urinary tract
malformations were observed during her mid-gestation anatomic survey. Following
referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to
have a dilated aortic root and a poorly ossified sternum with mild pectus
deformity. After elective termination, single nucleotide polymorphism
microarray testing identified a novel 204 kb microdeletion involving the short arm of
chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene.
Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1
or TGFBR2 gene, our experience suggests a more complex picture of LDS. The
study of such cases might further elucidate its pathogenesis.