چاپ صفحه |  صفحه نخست سامانه |  چکیده مقاله |  نویسندگان |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| Background Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is occurred by mutations in LAMA2 gene that encodes the laminin α2 chain (merosin). MDC1A is a predominant subtype of congenital muscular dystrophy. Herein, we identified two missense mutations in LAMA2 gene in compound heterozygous status in an Iranian patient with MDC1A using whole-exome sequencing (WES). Methods In the present study, we evaluated genetic alterations in an Iranian 35-month-old boy with MDC1A and his healthy family using WES method. The identified mutations further confirmed by Sanger sequencing method. Finally, in silico analysis was conducted to further evaluation of molecular function of the identified genetic variants. Results We identified two potentially pathogenic missense mutations in compound heterozygous state (c.7681G>A p.Gly2561Ser and c.4840A>G p.Asn1614Asp) in LAMA2 gene as contributing to the MDC1A phenotype. The healthy parents of our proband are single heterozygous for identified mutations. These variants were found to be pathogenic by in silico analysis. Conclusions In general, we successfully identified LAMA2 gene mutations in an Iranian patient with MDC1A using WES. The identified mutations in LAMA2 gene can be useful in genetic counseling, prenatal diagnosis, and predicting prognosis of MDC1A. 1 INTRODUCTION The merosin-deficient congenital muscular dystrophy type 1A (MDC1A) with autosomal recessive inheritance affects the peripheral and central nervous system in children.1 This disorder is characterized by increased levels of creatine kinase (CK) in serum, hypotonia, abnormalities of white matter, poor cry and suck, failure to thrive, and muscle weakness.2, 3 The prevalence of MDC1A is 1–9 per 1,000,000 children and constitutes 1–6% of all congenital muscular dystrophy cases.4, 5 Furthermore, this disorder is rarer in Asian population and more common in European countries and Caucasians race.5, 6 The various mutations in the LAMA2 gene (with 65 exons) are the main cause of MDC1A.7 Other major factors involved in congenital muscular dystrophies are presented in Figure 1. |
| نویسنده | نفر چندم مقاله |
|---|---|
| صبا حاج عظیمیان | هشتم |
| علیرضا عیسی زاده | نهم |
| بهزاد برادران | دهم |
| الهام طاهری اصغری | چهارم |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| 568-Identification of a compound heterozygous missense mutation.pdf | 1400/07/18 | 674652 | دانلود |
