alexa Abstract | Molecular Genetic Diagnosis for a Family with Type I Spinal Muscular Atrophy (SMA) via Analysis of the Survival Motor Neuron (SMN) Gene

Journal of Rare Disorders: Diagnosis & Therapy
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Case Report Open Access

Abstract

Autosomal recessive spinal muscular atrophy (SMA) is, after cystic fibrosis, the second most common fatal monogenic disorder. Depending on the clinical type, SMA causes early death or increasing disability in childhood. Here, we report a three month old Saudi girl presented with a history of coughing and respiratory distress who had previous admissions due to pneumonia. There was a positive family history of sibling death, at age 2 years, due to SMA. Genetically, we found homozygous deletions of the Survival Motor Neuron (SMN1) gene exons 7 and 8 using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Thus, confirming this case clinical diagnosis with presumed SMA type I. DNA testing of patients, in whom SMA is suspected, is a highly reliable, fast, and noninvasive method. The ability to detect homozygous gene deletions in a high percentage of typical SMA patients will much improve genetic counseling and prenatal diagnosis in affected families.

To read the full article Peer-reviewed Article PDF image | Peer-reviewed Full Article image

Author(s): Neda M Bogari Fareed R Bogari Husni H Rayes Noha M Alqassimi Huda M Balto Anas I Dannoun Raneem H Abushanab Amr Ahmed Amin Soud Abdulraof A Khogeer and Rami Nassir

Keywords

Spinal muscular atrophy (SMA), Survival Motor Neuron (SMN1) gene, Gene deletion of exon 7 and exon 8 of the SMN1, Chromosomal Abnormalities, Orphan Diseases, Orphan Drugs

 
Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords