title: 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.
authors.affiliation: Department of Medical Molecular Genetics, National Research Center, Cairo, Egypt.
authors.forename: Mona L
authors.initials: ML
authors.lastname: Essawi
authors.forename: Ghada M
authors.initials: GM
authors.lastname: Al-Attribi
authors.forename: Khaled R
authors.initials: KR
authors.lastname: Gaber
authors.forename: Ashraf A
authors.initials: AA
authors.lastname: El-Harouni
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D004534:Egypt; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006720:Homozygote; D006801:Humans; D008297:Male; D051616:Neuronal Apoptosis-Inhibitory Protein / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017384:Sequence Deletion; D014897:Spinal Muscular Atrophies of Childhood / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics
chemical_list: D017931:DNA Primers; C496800:NAIP protein, human; D051616:Neuronal Apoptosis-Inhibitory Protein; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein