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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?

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
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0022-3859.105451

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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.


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Online since 12th February '04
© 2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
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