10th Meeting of the Irish Society of Human Genetics, Monday 24th September 2007
نویسندگان
چکیده
Keynote address: " Sweet dreams: using genome wide association methods to find genes for diabetes and obesity " Irish Travellers are a nomadic people in whom early marriage, frequent child bearing and consanguinity are cultural norms. They number 22,445, <0.5% of the Irish population, 9.6% of the 1465 patients listed at NCIMD on January 1 st 2007 were Travellers. To date 21 different inherited metabolic disorders (IMDs) are reported. Our aim was to prospectively survey all referrals from this community .The study is part of a larger ongoing project to compile a database of " Irish Traveller " genetic disorders to ensure appropriate planning of services and provision of care. All referrals between January 1 st and June 30 th 2007 were reviewed, those with a Traveller background identified and the following information sought; source, reason & age of referral, diagnosis & outcome. Twenty eight (age range 1 day-16 yrs) of the 84 (33%) patients referred were Travellers. 15 new diagnoses of IMDs were established; of which 3 were genetic disorders not previously noted in this population (MSUD, X linked ALD and Hyperinsulinism). Six patients were diagnosed because of a family member with an IMD. Eight are under investigation for suspected metabolic disorder (mitochondrial). The remaining five are thought to have an undiagnosed autosomal recessive disorder because of the presence of multiple affected siblings. Apart from the patient with mucolipidosis, appropriate treatment was commenced once diagnosis was established with a good outcome to date. This study highlights the huge disease burden imposed by the increased frequency of genetic disorders in consanguinous communities and provides useful epidemiological information for service planning for patients with IMDs with particular reference to the Irish Traveller community S2. Counselling issues in a family with a presumed non-pathogenic mutation in TSC2. A diagnosis of Tuberous Sclerosis (TSC) can impact significantly on both the individual and the family. We report a family where the clinical presentation and genetic findings have presented difficulties in approaching management. Case 1 is an 8 year-old boy, who presented at age 8 with mild angiofibromata, but with no history of seizures or learning difficulty. MRI brain scan reported subcortical and periventricular hamartomas, and a small shagreen patch was found on clinical examination. He therefore fulfilled the diagnostic criteria for TSC. Mutation analysis identified a missense change in TSC2 – R261W – which was also found in the child's mother. No other mutations …
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عنوان ژورنال:
دوره 77 شماره
صفحات -
تاریخ انتشار 2008