Journal of Autism and Developmental Disorders published an article discussing Complicated MECP2 Gene Structural Rearrangement

Journal of Autism and Developmental Disorders (Impact factor 3.047 Q1 WOS) published an article by the researchers of DNA-Diagnostics Laboratory (headed by Prof. A.V. Polyakov, RAS corr. member), Epigenetics Lab (headed by V.V. Strelnikov, Doctor of biological sci.) and Cancelling Unit (headed by G.N. Matyuschenko) of FSBI RCMG Academician N.P.Bochkov Research Centre for Medical Genetics and Clinical Bioinformatics Laboratory, OOO Genomed LLC:

Rett syndrome is a progressive X-linked dominant disease that develops an impaired nervous system in girls. Mutations in the MECP2 gene are detected in 60-95% of cases in patients with the classic form of Rett syndrome. Most of them can be detected by Sanger sequencing, MLPA quantitative method, FISH or karyotyping methods. This paper describes a case of unique complex genome rearrangement that a standard diagnostic algorithm could not detect.

Tatiana Beskorovainaya, Fedor Konovalov, Nina Demina, Olga Shchagina, Maria Pashchenko, Ilya Kanivets, Denis Pyankov, Oxana Ryzhkova, Alexander Polyakov.

Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome. PMID: 32816169 

https://doi.org/10.1007/s10803-020-04668-0