Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients-Reference-Cited by-同舟云学术

Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients

Published:2024-03-01 Issue:1 Volume:14 Page:42-50
ISSN:2413-0443
Container-title:Neuromuscular Diseases
language:
Short-container-title:Neuromuscular Diseases

Author:

Dadali E. L.¹^ORCID,Markova T. V.¹^ORCID,Bostanova F. M.¹^ORCID,Kuchina A. S.¹^ORCID,Bessonova L. A.¹^ORCID,Melnik E. A.¹^ORCID,Zabnenkova V. V.¹^ORCID,Ryzhkova O. P.¹^ORCID,Agranovich O. E.²^ORCID

Affiliation:

1. Research Centre for Medical Genetics

2. H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery

Abstract

A description of the clinical and genetic characteristics of four Russian patients with Schaaf–Yang syndrome, caused by previously described and newly identified nucleotide variants in MAGEL2 gene, is presented. It was shown that the most severe clinical manifestations were found in a patient with the new identified variant c.1828C>T (p.Gln610Ter), while in a patient with a new nucleotide variant c.1609C>T (p.Gln537Ter) the manifestations of the disease were moderate. Considering the significant similarity of the clinical manifestations of Schaaf–Yang syndrome with Prader–Willi syndrome, the criteria for their differential diagnosis are outlined, the use of which will help optimize the process of molecular genetic analysis aimed at finding the etiologic factor.

Publisher

Publishing House ABV Press

Reference19 articles.

1. Schaaf C.P., Gonzalez-Garay M.L., Xia F. et al. Truncating mutations of MAGEL2 cause Prader–Willi phenotypes and autism. Nat Genet 2013;45 (11):1405–8. DOI: 10.1038/ng.2776

2. Fountain M.D., Aten E., Cho M.T. et al. The phenotypic spectrum of Schaaf–Yang syndrome: 18 new affected individuals from 14 families. Genet Med 2017;19(1):45–52. DOI: 10.1038/gim.2016.53

3. Fountain M.D., Schaaf C.P. Prader–Willi syndrome and Schaaf– Yang syndrome: Neurodevelopmental diseases intersecting at the MAGEL2 gene. Diseases 2016;4(1):2. DOI: 10.3390/diseases4010002

4. McCarthy J., Lupo P.J., Kovar E. et al. Schaaf–Yang syndrome overview: Report of 78 individuals. Am J Med Genet A 2018;176(12): 2564–74. DOI: 10.1002/ajmg.a.40650

5. Godler D.E., Butler M.G. Special issue: Genetics of Prader–Willi syndrome. Genes (Basel) 2021;12(9):1429. DOI: 10.3390/genes12091429