ESPE Abstracts (2016) 86 P-P2-838

A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in Korean Girl

Hyo-Kyoung Nama, Myung-Hyun Namb, Young-Jun Rhiea & Kee-Hyoung Leea

aDepartment of Pediatrics, College of Medicine, Korea University, Seoul, Republic of Korea; bDepartment of Laboratory Medicine, College of Medicine, Korea University, Seoul, Republic of Korea

Background: Marfan syndrome is one of the most common over-growth conditions and the cardinal features occur in ocular, skeletal and cardiovascular systems. Clinical variation is common and signs are age-dependent.

Case: A 9-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes plenus. Dilatation of aortic root was revealed on transthoracic echocardiography. She was diagnosed with Marfan syndrome based on well-defined clinical criteria (the revised Ghent diagnostic criteria). Molecular investigation identified heterozygous c.2810G>A mutation in the FBN1 gene leading to the amino acid substitution in affected patient, but was absent in her parents.

Conclusion: To our knowledge, c.2810G>A mutation is novel and has not been reported. We hypothesize that this novel FBN1 mutation might be able to cause a disruption of FBN1 function and is probably involved in the development Marfan syndrome in this patient.

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