Deletion of noncoding exons 1–2 causes Smith–Magenis syndrome

Capra V., Biancheri R., Morana G., Striano P., Novara F., Ferrero G. B. et al. 2014 Periventricular nodular heterotopia in Smith–Magenis syndrome. Am. J. Med. Genet. A 164, 3142–3147.

Article  CAS  Google Scholar 

Dubourg C., Bonnet-Brilhault F., Toutain A., Mignot C., Jacquette A., Dieux A. et al. 2014 Identification of nine new RAI1-truncating mutations in Smith–Magenis syndrome patients without 17p11.2 Deletions. Mol. Syndromol. 5, 57–64.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Falco M., Amabile S. and Acquaviva F. 2017 RAI1 gene mutations: mechanisms of Smith–Magenis syndrome. Appl. Clin. Genet. 10, 85.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Greenberg F., Guzzetta V., De Oca-Luna R. M., Magenis R. E., Smith A. C., Richter S. F. et al. 1991 Molecular analysis of the Smith–Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am. J. Hum. Genet. 49, 1207

CAS  PubMed  PubMed Central  Google Scholar 

Maya I., Vinkler C., Konen O., Kornreich L., Steinberg T., Yeshaya J. et al. 2014 Abnormal brain magnetic resonance imaging in two patients with Smith–Magenis syndrome. Am. J. Med. Genet. A 164, 1940–1946.

Article  CAS  Google Scholar 

Momosaki K., Kido J., Matsumoto S., Ozasa S. and Nakamura K. 2020 Adrenocorticotropic Hormone therapy improved spasms and sleep disturbance in Smith–Magenis syndrome: a case report. Pediatr. Rep. 12, 72.

Article  PubMed  PubMed Central  Google Scholar 

Rinaldi B., Villa R., Sironi A., Garavelli, F. P., Bedeschi M. F. et al. 2022 Smith–Magenis syndrome—clinical review, biological background and related disorders. Genes (Basel) 13, 2

Article  Google Scholar 

Smith A. C., McGavran L., Robinson J., Waldstein G., Macfarlane J., Zonona J. et al. 1986 Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am. J. Med. Genet. 24, 393–414.

Article  CAS  PubMed  Google Scholar 

Toulouse A., Rochefort D., Roussel J., Joober R. and Rouleau G. A. 2003 Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia. Genomics 82, 162–171.

Article  CAS  PubMed  Google Scholar 

Vieira G. H., Rodriguez J. D., Carmona-Mora P., Cao L., Gamba B. F., Carvalho D. R. et al. 2011 Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome. Eur. J. Hum. Genet. 20, 148–154.

Google Scholar 

Vilboux T., Ciccone C., Blancato J. K., Cox G. F., Deshpande C., Introne W. J. et al. 2011 Molecular analysis of the retinoic acid induced 1 gene (RAI1) in patients with suspected Smith–Magenis syndrome without the 17p11.2 deletion. PLoS One 6, e22861.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vocke C. D., Fleming L. R., Piskorski A. M., Amin A., Phornphutkul C., De La Monte S. et al. 2023 A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening. Am. J. Med. Genet. A 191, 490–497.

Article  PubMed  Google Scholar 

Comments (0)

No login
gif