Deletion Analysis of SMN1 Exon 7 Alone May Be Necessary and Sufficient for the Diagnosis of Spinal Muscular Atrophy

Teguh Haryo Sasongko Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, Kelantan, MalaysiaCorrespondence[email protected] [email protected]

Gunadi Pediatric Surgery Division, Department of Surgery, Sardjito Hospital, Faculty of Medicine, Universitas Gadjah Mada, Jogjakarta, Indonesia

Bin Alwi Zilfalil Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, Kelantan, Malaysia

ZAMH Zabidi-Hussin Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, Kelantan, Malaysia

Abstract

Abstract: The authors suggest a simplification for the current molecular genetic testing of spinal muscular atrophy (SMA). Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of SMA. It is based on sole contribution of survival motor neuron 1 (SMN1) exon 7 to SMA pathogenesis.

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Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

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Deletion Analysis of SMN1 Exon 7 Alone May Be Necessary and Sufficient for the Diagnosis of Spinal Muscular Atrophy

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Deletion Analysis of SMN1 Exon 7 Alone May Be Necessary and Sufficient for the Diagnosis of Spinal Muscular Atrophy

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