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Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13

✍ Scribed by Derek E. Neilson; Heidi S. Feiler; Kirk C. Wilhelmsen; Audrey Lynn; Robert M. Eiben; Douglas S. Kerr; Matthew L. Warman

Book ID: 101467306
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 116 KB
Volume: 55
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.10849

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✦ Synopsis

Abstract

In autosomal dominant acute necrotizing encephalopathy (ADANE), apparently healthy children develop necrotizing lesions in their thalami and brainstems in the course of febrile illnesses. We used DNA from affected subjects and obligate carriers to map ADANE to a 6.5Mb region on chromosome 2. Sequencing of four candidate genes in the interval (BCL2L11, ST6GalII, CHT1, and FLJ20019), involved in apoptosis, viral recognition, choline transport, and electron transport, showed no disease causing mutations.

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