A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype.
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.


OBJECTIVE
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.


METHODS
Clinical examination, PCR, DNA sequencing, quantitative PCR, Southern blot, xray, ultrasound, cardiac catheterisation and angiocardiography.


RESULTS
Initially the sequence variant in c.392C>T 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.


CONCLUSIONS
This report points out the need for careful evaluation of molecular genetic findings, particularly in diseases with highly variable phenotype.
Argyriou
Loukas
L
Georg-August University Göttingen, Institute of Human Genetics, Göttingen, Germany. argi13@yahoo.com
Wirbelauer
Johannes
J
Dev
Arvind
A
Panchulidze
Irakli
I
Shoukier
Moneef
M
Teske
Ute
U
Nayernia
Karim
K
D019411:Clinical Laboratory Techniques; D004247:DNA / Q000097:blood / Q000302:isolation & purification; D005858:Germany; D006801:Humans; D007223:Infant; D010641:Phenotype; D012720:Severity of Illness Index; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*
D004247:DNA