دانلود مقاله ISI انگلیسی شماره 127651
کد مقاله سال انتشار مقاله انگلیسی ترجمه فارسی تعداد کلمات
127651 2017 5 صفحه PDF سفارش دهید 3062 کلمه
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عنوان انگلیسی
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
منبع

Publisher : Elsevier - Science Direct (الزویر - ساینس دایرکت)

Journal : European Journal of Medical Genetics, Volume 60, Issue 9, September 2017, Pages 494-498

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پیش نمایش مقاله

چکیده انگلیسی

Ankyrin-G, encoded by ANK3, plays an important role in neurodevelopment and neuronal function. There are multiple isoforms of Ankyrin-G resulting in differential tissue expression and function. Heterozygous missense mutations in ANK3 have been associated with autism spectrum disorder. Further, in three siblings a homozygous frameshift mutation affecting only the longest isoform and a patient with a balanced translocation disrupting all isoforms were documented. The latter four patients were affected by a variable degree of intellectual disability, attention deficit hyperactivity disorder and autism. Here, we report on a boy with speech impairment, intellectual disability, autistic features, macrocephaly, macrosomia, chronic hunger and an altered sleeping pattern. By trio-whole-exome sequencing, we identified the first de novo nonsense mutation affecting all ANK3 transcripts. Thus, our data expand the phenotype of ANK3-associated diseases and suggest an isoform-based, phenotypic continuum between dominant and recessive ANK3-associated pathologies.

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