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

• Published in: Gene Vol. 509; no. 1; pp. 120 - 123
• Main Authors: Essawi, Mona L., Al-Attribi, Ghada M., Gaber, Khaled R., El-Harouni, Ashraf A.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.11.2012
• Subjects: apoptosis; Base Sequence; childhood; children; counseling; decision making; DNA Primers - genetics; Egypt; Exons; Female; fetus; gene deletion; genes; Genes, Recessive; Genetic Counseling; homozygosity; Homozygote; Humans; Male; mortality; muscular atrophy; Mutation detection; NAIP gene; Neuronal Apoptosis-Inhibitory Protein - genetics; patients; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Pregnancy; Prenatal Diagnosis - methods; risk; Sequence Deletion; SMA; SMN1 gene; Spinal Muscular Atrophies of Childhood - classification; Spinal Muscular Atrophies of Childhood - diagnosis; Spinal Muscular Atrophies of Childhood - genetics; Survival of Motor Neuron 1 Protein - genetics; Egypt; Mutation detection; REFLP; Δ7SMN1; SMA; SMN2; SMN1 gene; SMN1; NAIP; PCR; NAIP gene
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2012.07.085

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. ► This study comment on the importance of prenatal diagnosis of SMA among Egyptians. ► Eighty five fetuses from 75 Egyptian families were evaluated. ► Mutations in SMN1 & NAIP genes were detected using PCR-REFLP and multiplex PCR method. ► Homozygous deletion of exon 7 in SMN1 gene were detected in 18 fetuses. ► Prenatal diagnosis is important for genetic counseling of SMA in high risk families.