Journal of Postgraduate Medicine
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CASE REPORT
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Year : 2012  |  Volume : 58  |  Issue : 4  |  Page : 294-295  

Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: Unusual genetic mutation leading to unusual manifestation?

D Maiti, M Bhattacharya, S Yadav 
 Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India

Correspondence Address:
M Bhattacharya
Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi
India

Proximal spinal muscular atrophy (SMA) or type 1 SMA is a fatal autosomal recessive disorder usually caused by homozygous deletion of exons 7 and 8 in the survivor motor neuron (SMN) gene. Additional deletion of the neuronal apotosis inhibitory protein (NAIP) gene exacerbates the clinical severity. Isolated exon 8 deletion has been reported in a single case series of SMA types 2 and 3 and never with SMA type 1. While extraocular muscles are typically spared, there are a few case reports documenting associated external ophthalmoplegia. Optic atrophy is a hitherto unreported association of SMA. We report a 10-month-old male infant with SMA type 1 with optic atrophy due to isolated deletion of exon 8 of the SMN gene with intact exon 7 and NAIP gene.


How to cite this article:
Maiti D, Bhattacharya M, Yadav S. Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: Unusual genetic mutation leading to unusual manifestation?.J Postgrad Med 2012;58:294-295


How to cite this URL:
Maiti D, Bhattacharya M, Yadav S. Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: Unusual genetic mutation leading to unusual manifestation?. J Postgrad Med [serial online] 2012 [cited 2022 Oct 4 ];58:294-295
Available from: https://www.jpgmonline.com/article.asp?issn=0022-3859;year=2012;volume=58;issue=4;spage=294;epage=295;aulast=Maiti;type=0


 
Tuesday, October 4, 2022
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