Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7
نویسندگان
چکیده
منابع مشابه
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Spinal muscular atrophy (SMA) is a common autosomal recessive disease. SMA is linked to the 5q13 locus in 95% of patients, and in at least 98% of them, the SMN1 homozygous deletion is found. Compound heterozygous patients, who have an SMN1 deletion associated with a subtle mutation, appear undeleted with the common molecular diagnostic test that detects only the homozygous absence of SMN1. In t...
متن کاملفاقدعنوان فارسی است
Background & Aims: Spinal muscular atrophy (SMA) is a common disorder with autosomal recessive inheritance pattern. The frequency of carriers of this disease is one in forty to one in sixty. SMA occurs in 98% of cases due to the homozygous deletion of SMN1 exons 7 and 8. The purpose of this study was to evaluating the deletion and point mutations of the SMN1 gene in patients with SMA in west Az...
متن کاملMolecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases. Survival motor neuron1 (SMN1) is the SMA disease-determining gene. We examined the molecular basis of SMA in 113 Chinese SMA patients. Homozygous exon 7 and 8 deletions in SMN1 were detected by PCR-RFLP. Heterozygous deletion of SMN1 was analyzed based on variation of the sequencing peak height of the two diff...
متن کاملHow do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with dysfunctional α-motor neurons in the anterior horn of the spinal cord. SMA is caused by loss (∼95% of SMA cases) or mutation (∼5% of SMA cases) of the survival motor neuron 1 gene SMN1. As the product of SMN1, SMN is a component of the SMN complex, and is also involved in the biosynthesis of the small nuclear rib...
متن کاملA homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA
Spinal muscular atrophy (SMA), the most common autosomal recessive cause of infant death, is typically diagnosed by determination of SMN1 copy number. Approximately 3-5% of patients with SMA retain at least one copy of the SMN1 gene carrying pathogenic insertions, deletions, or point mutations. We report a patient with SMA who is homozygous for two mutations carried in cis: an 8 bp duplication ...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2012
ISSN: 1471-2350
DOI: 10.1186/1471-2350-13-86