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Journal of Child Neurology
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Molecular Genetic Study of a Childhood Form of Spinal Muscular Atrophy

Virginia Wong, MBBS, MRCP(UK), FRCP(Lond, Edin), FRCPCH, FHKAM(Paed), FHKCPath, DCH(Lond, Glas)

,Division of Neicrodevetopmental Paediatrics , Department of Paediatrics The University of Hong Kong

Vivian Chan, PhD, DIC, FACB, FRCPath

Department of Medicine The University of Hong Kong, Hong Kong

Molecular genetic studies were performed in 28 cases of childhood-onset spinal muscular atrophy (24 unrelated families). This consisted of type 1 (severe) (n = 5), type 2 (intermediate form) (n = 8), and type 3 (mild) (n = 15). Deletion of exons 7 and 8 of the SMNt gene was found in 100%, 100%, and 93%, respectively, in type 1, 2, and 3 spinal muscular atrophy. Deletion of exons 5 and 6 of the NAIP gene was found in 3 of 5 (60%) of type 1 and none of the type 2 and 3 cases. None of the 32 asymptomatic relatives had homozygous deletions in the SMNt and NAIP genes. Thus, the role of the NAIP gene needs to be specifically defined in spinal muscular atrophy. In a suspected case of spinal muscular atrophy, deletion of the SMNt gene is a useful laboratory marker for confirmation of the diagnosis. (J Child Neurol 2001;16:291-294).

Journal of Child Neurology, Vol. 16, No. 4, 291-294 (2001)
DOI: 10.1177/088307380101600412
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B. H.Y. Chung, V. C.N. Wong, and P. Ip
Spinal Muscular Atrophy: Survival Pattern and Functional Status
Pediatrics, November 1, 2004; 114(5): e548 - e553.
[Abstract] [Full Text] [PDF]