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Homozygous GDF2-Related Hereditary Hemorrhagic Telangiectasia in a Chinese Family
- Source :
- Pediatrics. 146
- Publication Year :
- 2020
- Publisher :
- American Academy of Pediatrics (AAP), 2020.
-
Abstract
- Hereditary hemorrhagic telangiectasia (HHT) can be clinically diagnosed, but children often lack characteristic features. We report a family with homozygous growth differentiation factor 2 (GDF2)–related HHT diagnosed by genetic testing. A boy aged 5 years and 2 months presented with isolated hypoxemia. He was the product of a consanguineous marriage; his parents were second cousins. Physical examination revealed cyanosis of nail beds and clubbed fingers. Pulse oxygen saturation was 84% to 89%. Lung function, contrast-enhanced lung computed tomography, and noncontrast echocardiography were normal. A pulmonary perfusion scan revealed radioactivity in the brain and bilateral kidney, suggesting the existence of a intrapulmonary shunt. Whole-exome sequencing revealed a homozygous variant [c.1060_1062delinsAG (p.Tyr354ArgfsTer15)] in GDF2, which was found to be inherited from his heterozygous parents. At the age of 8 years, he developed epistaxis, and an angiogram revealed diffuse pulmonary arteriovenous malformations. At the age of 9 years, he was treated with sirolimus, and his condition improved significantly. However, his now 7-year-old sister with the same homozygous variant currently has no symptoms. Physical examinations revealed 1 pinpoint-sized telangiectasia on the chest of his mother and a vascular lesion on the forehead of his sister. Additionally, the patient’s father and great-uncle had a history of mild to moderate epistaxis. Mutation in GDF2 is a rare cause of HHT. Ours is the first report of homozygous GDF2-related HHT; in addition, this variant has not been reported previously. In our report, we also confirm variable expressivity, even with the same pathogenic variant in GDF2-related HHT.
- Subjects :
- Proband
medicine.medical_specialty
Lung
medicine.diagnostic_test
business.industry
Physical examination
Perfusion scanning
Consanguinity
Gastroenterology
Hypoxemia
medicine.anatomical_structure
Internal medicine
Pediatrics, Perinatology and Child Health
medicine
medicine.symptom
Telangiectasia
business
Exome sequencing
Subjects
Details
- ISSN :
- 10984275 and 00314005
- Volume :
- 146
- Database :
- OpenAIRE
- Journal :
- Pediatrics
- Accession number :
- edsair.doi...........699e3a71293d4d3c56a6052e84396c13