Deletion analysis of Bulgarian SMA families

Human Mutation
A JordanovaI Kremensky

Abstract

All three types of autosomal recessive spinal muscular atrophy map to chromosome region 5q13. Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Here we report the first deletion analysis of Bulgarian SMA families. Homozygous deletion of exons 7 and 8 of the SMN gene were found in 85% of our patients, but the NAIP gene (exons 5 and 6) was deleted in only 26% of patients. To our knowledge, these frequencies are some of the lowest reported so far. The NAIP gene was deleted predominantly in severely affected patients (type I), while in the group with milder types SMA only deletions of the SMN gene were detected. Our phenotype-genotype correlation study confirmed that larger deletions are associated with more severe clinical course. The Bulgarian data support the thesis that the telomeric SMN gene could play a major role in determining SMA, while the NAIP or the centromeric SMN copy have a modifying effect on the phenotype.

References

Jan 1, 1992·Neuromuscular Disorders : NMD·T L Munsat, K E Davies
Apr 1, 1996·Journal of Medical Genetics·P BurletJ Melki
Feb 1, 1996·Journal of Medical Genetics·N R RodriguesK E Davies

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Citations

Jun 14, 2002·Neuromuscular Disorders : NMD·Albena JordanovaLuba Kalaydjieva
May 2, 2009·Pediatrics International : Official Journal of the Japan Pediatric Society·Omid OmraniMohammad Barzgar
May 29, 2015·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·L TheodorouK Christodoulou
Jun 29, 1999·Journal of Inherited Metabolic Disease·I KremenskyA Jordanova

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