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Modern possibilities of рroviding medical-genetic care in a family with rare hereditary syndrome EEC: a case report
https://doi.org/10.25557/2073-7998.2025.11.106-108
Abstract
The article presents a description of a clinical case of a rare hereditary syndrome «Ectrodactyly-ectodermal dysplasia with cleft lip/ palate» (EEC3, OMIM #604292). Modern capabilities of NGS sequencing for identifying pathogenic variants of nucleotide sequences in the TP63 gene are demonstrated. A pathogenic variant was identified in the proband, which confirmed the diagnosis and allowed the family to plan childbearing.
Supporting agencies: The study was conducted without external funding
About the Authors
O. S. Senina
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
8/2 Trubetskaya st.., Moscow, 119991
O. M. Sizyakova
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
8/2 Trubetskaya st.., Moscow, 119991
A. S. Kuchina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
M. S. Balashova
I.M. Sechenov First Moscow State Medical University (Sechenov University); Russian research center of surgery named after academician B.V. Petrovsky
Russian Federation
Russian Federation
8/2 Trubetskaya st.., Moscow, 119991; 2, Abrikosovsky Lane, Moscow, 119435
T. V. Filippova
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
8/2 Trubetskaya st.., Moscow, 119991
T. I. Subbotina
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
8/2 Trubetskaya st.., Moscow, 119991
N. A. Zhuchenko
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
8/2 Trubetskaya st.., Moscow, 119991
References
1. Corona-Rivera J.R., Rios-Flores I.M., Zenteno J.C., et al. Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63Gene. Mol Syndromol. 2024;15(1):51-57. doi: 10.1159/000531934.
2. Savukyne E., Machtejeviene E., Bajeruniene K., Asmoniene V. Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review. Case Rep Perinat Med. 2022;11(1):20210076. doi: 10.1515/crpm-2021-0076.
3. van Bokhoven H., Hamel B.C., Bamshad M., et al. p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet. 2001;69(3):481-92. doi: 10.1086/323123.
4. Barbaro V., Bonelli F., Ferrari S., et al. Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome. Cells. 2023;12(3):495. doi: 10.3390/cells12030495.
Review
For citations:
Senina O.S., Sizyakova O.M., Kuchina A.S., Balashova M.S., Filippova T.V., Subbotina T.I., Zhuchenko N.A. Modern possibilities of рroviding medical-genetic care in a family with rare hereditary syndrome EEC: a case report. Medical Genetics. 2025;24(11):106-108. (In Russ.) https://doi.org/10.25557/2073-7998.2025.11.106-108
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