A novel mutation in the MECP2 gene identified in cohort of rett syndrome patients from Ukraine

Chernushyn S.Yu., Gulkovskyi R.V., Livshits L.A.

SUMMARY. Mutations in the MECP2 gene are known to cause Rett syndrome (RTT) – a neurodevelopmental disorder, one of the most common causes of intellectual disability in females, with an incidence of 1 in 10,000–15,000. We have investigated exons 3 and 4 of the MECP2 gene, that coding MBD and TRD domains of the MeCP2 protein, in 21 RTT patients from Ukraine by PCR-DGGE analysis followed by Sanger sequencing of PCR fragments with abnormal migration profiles. In 13 of 21 (61,9 %) patients 7 different mutations were identified one nonsense mutation – c. NC_000023.11:g.154031326G>A (MECP2:c.502C>T) and 4 missense mutation NC_000023.11:g.154031409G>T (MECP2:c.419C>T), NC_000023.11:g.154031355G>A (MECP2:c.473C>T), NC_000023.11:g.154031354A>C (MECP2:c.472A>C), NC_000023.11:g.154031431G>A (MECP2:c.397C>T) located in exon 4, a rare RTT-causing splice site mutation NC_000023.10:g.153296903T>G (MECP2:c.378-2A>C) in intron 3 and deletion NC_000023.10:g.153296079_153296122del44 in exon 4. The novel mutation MECP2:c.472A>C identified in our study in patients with classic RTT phenotype leds to T158P substitution. It is one more confirmation of crucial role that 158 codon in MECP2 protein function.

Tsitologiya i Genetika 2018, vol. 52, no. 4, pp. 68-75

Chernushyn S.Yu., Gulkovskyi R.V., Livshits L.A. A novel mutation in the MECP2 gene identified in cohort of rett syndrome patients from Ukraine, Tsitol Genet., 2018, vol. 52, no. 4, pp. 68-75.

In "Cytology and Genetics":
S. Chernushyn, R. Gulkovskyi, L. Livshits Novel Mutation in the MECP2 Gene Identified in a Group of Rett Syndrome Patients from Ukraine, Cytol Genet., 2018, vol. 52, no. 4, pp. 294–298
DOI: 10.3103/S0095452718040023