کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8644262 | 1569446 | 2018 | 26 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: 2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family 2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family](/preview/png/8644262.png)
چکیده انگلیسی
Pontocerebellar hypoplasia type 10 (PCH10) is a progressive autosomal recessive neurodegenerative disorder that has been recently described in association with cleavage and polyadenylation factor I subunit 1 (CLP1) mutations. To date, all reported cases have the same homozygous missense mutation in the CLP1 gene suggesting a founder mutation. CLP1 is an RNA kinase involved in tRNA splicing and maturation. There is evidence that the mutation is associated with functionally impaired kinase activity and subsequent defective tRNA processing. Through whole exome sequencing, we identified the same mutation in an extended family of Turkish origin. Both children presented with severe psychomotor delay, progressive microcephaly, and constipation. However, intrafamilial phenotypic variability is suggested due to the variability in their brain abnormalities and clinical features.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 61, Issue 5, May 2018, Pages 273-279
Journal: European Journal of Medical Genetics - Volume 61, Issue 5, May 2018, Pages 273-279
نویسندگان
Mohamed Wafik, John Taylor, Tracy Lester, Richard J. Gibbons, Deborah J. Shears,