A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype
| Autor: | Irakli Panchulidze, Moneef Shoukier, Ute Teske, Arvind Dev, Karim Nayernia, Loukas Argyriou, Johannes Wirbelauer |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Genetics
Pathology medicine.medical_specialty Mutation business.industry Clinical Laboratory Techniques Infant General Medicine DNA Endoglin medicine.disease_cause Phenotype Severity of Illness Index Exon Severe phenotype Germany Medicine Humans Telangiectasia Hereditary Hemorrhagic medicine.symptom business Telangiectasia Sequence (medicine) Hereditary haemorrhagic telangiectasia |
| Zdroj: | Swiss medical weekly. 138(29-30) |
| ISSN: | 1424-7860 |
| Popis: | Hereditary haemorrhagic telangiectasia (HHT), associated with arteriovenous malformations, is a genetic disease of the vascular system with a frequency of approx. 1:10,000. Genetic diagnosis serves to identify individuals at risk of developing the disease and is a useful tool for genetic counselling purposes.Here we report on a child presenting severe arteriovenous malformations leading to heart failure. Her mother and grandmother present fewer symptoms of hereditary haemorrhagic telangiectasia. In this study we identify the cause of HHT in the family.Clinical examination, PCR, DNA sequencing, quantitative PCR, Southern blot, xray, ultrasound, cardiac catheterisation and angiocardiography.Initially the sequence variant in c.392CT in the endoglin gene was detected in the grandmother, but not in other affected family members. Further analyses revealed a deletion of exon 1 of endoglin, segregating with the phenotype.This report points out the need for careful evaluation of molecular genetic findings, particularly in diseases with highly variable phenotype. |
| Databáze: | OpenAIRE |
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