Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients
نویسندگان
چکیده
منابع مشابه
Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disorder, which is caused by mutations of the survival motor neuron 1 (SMN1) gene. Additionally, the phenotype is modified by several genes nearby SMN1 in the 5q13 region. In this study, we analyzed mutations in SMN1 and quantified the modifying genes, including SMN2, NAIP, GTF2H2, and H4F5 by polymerase ...
متن کاملSMN1 and NAIP genes deletions in different types of spinal muscular atrophy in Khuzestan province, Iran
Background: Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease. It is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. The SMN1 gene is recognized as a SMA causing gene while NAIP has been characterized as a modifying factor for the clinical ...
متن کاملبررسی ارتباط فنوتیپ و ژنوتیپ در بیماران مبتلا به آتروفی عضلانی ـ نخاعی در منطقه‌ی آذربایجان شرقی
Background and Objectives: The neuromuscular degenerative disorder, known as spinal muscular atrophy (SMA), is a common fatal disease in neonates. In most patients with SMA, exon 7 and/or exon 8 of SMN1 gene is deleted. It is reported that the deletion of exon 5 from NAIP gene may be involved in the severity of SMA disease. The present study was aimed to evaluate the genotype- phenotype correla...
متن کاملDeletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy.
The SMN1 and NAIP genes are related to the development of spinal muscular atrophy (SMA), which is characterized by degeneration of motor neurons leading to progressive muscular weakness and atrophy. The SMN1 gene is homozygously deleted in most SMA patients, and now recognized as a responsible gene for SMA. The NAIP gene is often deleted in the SMA patients with the severest form of SMA, and no...
متن کاملMolecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy.
INTRODUCTION Childhood-onset proximal spinal muscular atrophies (SMAs) are an autosomal recessive, clinically heterogeneous group of neuropathies characterised by the selective degeneration of anterior horn cells. SMA has an estimated incidence of 1 in 10,000 live births. The causative genes are survival motor neuron (SMN) gene and neuronal apoptosis inhibitory protein (NAIP) gene. Deletions of...
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ژورنال
عنوان ژورنال: Egyptian Journal of Medical Human Genetics
سال: 2020
ISSN: 2090-2441
DOI: 10.1186/s43042-019-0044-z