The effects of missense changes and small in-frame deletions and insertions on protein function are not easy to predict, and the identification of such variants in individuals at risk of a genetic disease can complicate genetic counselling. One option is to perform functional tests to assess whether
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex
โ Scribed by Marianne Hoogeveen-Westerveld; Rosemary Ekong; Sue Povey; Izabela Karbassi; Sat Dev Batish; Johan T. den Dunnen; Agnies van Eeghen; Elizabeth Thiele; Karin Mayer; Kira Dies; Li Wen; Catherine Thompson; Steven P. Sparagana; Peter Davies; Cora Aalfs; Ans van den Ouweland; Dicky Halley; Mark Nellist
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 210 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
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## Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by abnormalities involving the skin, brain, kidney (angiomyolipomas, cysts), and heart. Horseshoe kidney has not been considered to be a common renal manifestation of TSC but it has been previou
Chordomas are rare sacrococcygeal/sacral, sphenooccipital/clivus, and spinal tumors whose molecular etiology remains relatively understudied. As several anecdotal reports had described chordomas in individuals with tuberous sclerosis complex (TSC), a multisystem hamartoma syndrome, we hypothesized t
The functional consequences of missense variants are often difficult to predict. This becomes especially relevant when DNA sequence changes are used to determine a diagnosis or prognosis. To analyze the consequences of 12 missense variants in patients with mild forms of ataxia-telangiectasia (A-T),