کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5588971 | 1569452 | 2017 | 16 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome
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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: A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome](/preview/png/5588971.png)
چکیده انگلیسی
The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and syndactyly of the second to fifth toes in her right foot. She also had severe hearing loss in both ears. The second case was a 12-year-old boy with bilateral anophthalmia, camptodactyly in his right hand, oligodactyly in his foot, clubfoot, and cryptorchidism. Both patients were mentally normal. To detect the causative mutation all exons and exon-intron boundaries of SMOC1 gene were sequenced in patients and other normal family members. We found a homozygous missense mutation (NM_001034852.2(SMOC1):c.367TÂ >Â C) in exon 3 of SMOC1 gene in both patients. As the mutation segregated with the disease in the family, it should be the causative mutation. Our study extended the mutation spectrum of SMOC1 gene related to WAS.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 60, Issue 11, November 2017, Pages 578-582
Journal: European Journal of Medical Genetics - Volume 60, Issue 11, November 2017, Pages 578-582
نویسندگان
Javad Jamshidi, Shokoufeh Abdollahi, Hamid Ghaedi, Elham Alehabib, Abbas Tafakhori, Somayeh Alinaghi, Marjan Chapi, Amir Hossein Johari, Hossein Darvish,