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Article . 2012 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
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Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs)

Authors: Khaled R. Gaber; Ashraf A. El-Harouni; Mona L. Essawi; Ghada M. Al-Attribi;

Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs)

Abstract

Autosomal recessive childhood spinal muscular atrophy (SMAs) is the second most common neuromuscular disorder and a common cause of infant disability and mortality. SMA patients are classified into three clinical types based on age of onset, and severity of symptoms. About 94% of patients have homozygous deletion of exon 7 in survival motor neuron (SMN1) gene. The neuronal apoptosis inhibitory protein (NAIP) gene was found to be more frequently deleted in the severest form of the disease. This study aimed to comment on the implementation of genetic counseling and prenatal diagnosis of SMAs for 85 fetuses from 75 Egyptian couples at risk of having an affected child. The homozygous deletion of exon 7 in SMN1 gene and the deletion of exon 5 of the NAIP gene were detected using PCR-REFLP and multiplex PCR methods respectively. Eighteen fetuses showed homozygous deletion of exon 7 in SMN1 gene and deletion of exon 5 in NAIP gene. In conclusion prenatal diagnosis is an important tool for accurate diagnosis and genetic counseling that help decision making in high risk families.

Related Organizations
Keywords

Male, Base Sequence, Homozygote, Genes, Recessive, Genetic Counseling, Exons, Spinal Muscular Atrophies of Childhood, Polymerase Chain Reaction, Survival of Motor Neuron 1 Protein, Neuronal Apoptosis-Inhibitory Protein, Pregnancy, Prenatal Diagnosis, Humans, Egypt, Female, Polymorphism, Restriction Fragment Length, DNA Primers, Sequence Deletion

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
5
Average
Average
Average
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