Session Chair: Erna Magnúsdóttir
10:40-10:55: Molecular Genetics of Inherited Retinal Degenerations in Icelandic patients
10:55-11:10: Pilarowski-Björnsson Syndrome is a sexually dimorphic trait
11:10-11:25: Hypoxia normalizes precocious differentiation in a Kabuki syndrome chondrocyte model
11:25-11:40: GWAS on band neutrophil fraction and identification of a Pelger-Huët family
Abstracts in session A-Z
Guðjón Óskarsson. Pelger-Huët anomaly (PHA) is a benign disorder characterised by a hypolobulated granulocyte nucleus. PHA is caused by mutations in LBR. A 6-generation PHA pedigree in Iceland has been described. The focus of the study was to find variants affecting granulocyte nuclear morphology and to identify the PHA family.
Main author: Sara Þöll Halldórsdóttir. Kabuki syndrome chondrocyte model exhibits precocious differentiation when grown in normal oxygen concentration accompanied by abnormal gene expression. However, differentiation rate is normalized when induced in hypoxic environment.
Jón Jóhannes Jónsson. Rannsókn á erfðaorsökum arfgengra hrörnunarsjúkdóma í augnbotnum hjá íslenskum sjúklingum, Alls voru 140 sjúklingar greindir með þessa sjúkdóma þar af höfðu 70 farið í erfðarannsókn. Erfðabrigði hjá íslenskum sjúklingum reyndist ólík erfðabrigðum sem valda þessum sjúkdómum hjá nágrannaþjóðunum.
Main author: Kimberley Anderson. Here, we present a novel mouse model for the neurodevelopmental disorder, Pilarowski-Björnsson syndrome (PBS). We have observed striking sexually dimorphic phenotypes in these mice, and will use our findings to improve mechanistic understanding of the disorder.