Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype-Reference-Cited by-同舟云学术

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Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype

Published:2013-07-29 Issue:9 Volume:161 Page:2316-2320
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Peron Angela¹,Spaccini Luigina¹,Norris Joy²,Bova Stefania M.³,Selicorni Angelo⁴,Weber Giovanna⁵,Wood Tim²,Schwartz Charles E.²,Mastrangelo Massimo³

Affiliation:

1. Clinical Genetics Service; V. Buzzi Children's Hospital; ICP Milan Italy

2. JC Self Research Institute; Greenwood Genetic Center; Greenwood South Carolina

3. Pediatric Neurology Unit; V. Buzzi Children's Hospital; ICP Milan Italy

4. Pediatric Clinical Genetics Unit; Fondazione MBBM; Monza Italy

5. Pediatrics Clinic; Vita-Salute San Raffaele University; Milan Italy

Funder

South Carolina Department of Disabilities and Special Needs

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36116/fullpdf

Reference9 articles.

1. X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12;Arena;Am J Med Genet,1996

2. A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome;Becerra-Solano;Am J Med Genet Part A,2009

3. X-linked spermine synthase gene (SMS) defect: The first polyamine deficiency syndrome;Cason;Eur J Hum Genet,2003

4. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome;de Alencastro;J Med Genet,2008

5. The impact of spermine synthase (SMS) mutations on brain morphology;Kesler;Neurogenetics,2009

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1. Structural Insights into the Mechanisms Underlying Polyaminopathies;International Journal of Molecular Sciences;2024-06-07

2. Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study;International Journal of Molecular Sciences;2024-01-19

3. Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant;Rare;2024

4. Bone manifestations in Snyder‐Robinson syndrome;Rare;2024

5. Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder–Robinson syndrome;EMBO Molecular Medicine;2023-09-13

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