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Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series
  1. Anna S Bolshakova1,
  2. Dmitry N Maslennikov2,
  3. Jekaterina Shubina2,
  4. Andrey A Bystritskiy3,
  5. Ekaterina R Tolmacheva4,
  6. Irina S Mukosey3,
  7. Taisiya O Kochetkova3,
  8. Grigory S Vasiliev1,
  9. Ekaterina E Atapina3,
  10. Igor O Sadelov2,
  11. Nadezhda V Zaretskaya1,
  12. Ilya Yu Barkov5,
  13. Dmitry N Degtyarev6,
  14. Dmitry Yu Trofimov7
  1. 1 Department of Clinical Genetics, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation
  2. 2 Laboratory of Genomic Data Analysis, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation
  3. 3 Laboratory of Molecular Genetics Methods, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation
  4. 4 Laboratory of the Analysis of Genomic Data, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation
  5. 5 Laboratory of Prenatal DNA Screening, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation
  6. 6 FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation
  7. 7 Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation
  1. Correspondence to Dr Andrey A Bystritskiy; a_bystritskiy{at}oparina4.ru

Abstract

Objective We describe the clinical and genetic characteristics of fetuses and infants diagnosed with tuberous sclerosis complex (TSC) in our centre, prenatally or neonatally, for a better understanding of the benefits of early screening.

Methods In this retrospective study, we analysed the data on one fetus and nine infants with a definitive TSC diagnosis by genetic criteria (five patients carrying TSC1 variants and 5 patients carrying TSC2 variants). We explored the differences between phenotypes of patients carrying TSC1 and TSC2 pathogenic variants.

Results The most common initial presenting features of TSC were cardiac rhabdomyomas (CRs) that were observed in nine out of ten patients. The most common postnatal features, besides CR, were presented with subependymal nodules—in five patients, and hypomelanotic macules—in four patients. In total, 10 variants causing TSC were detected in this study, including 5 novel variants. We demonstrated that patients with TSC2 variants had earlier onset and more severe clinical manifestations compared with patients carrying TSC1 variants.

Conclusion Early diagnosis of TSC improves genetic counselling and perinatal management.

  • genetic diseases, inborn
  • infant, newborn, diseases
  • heart
  • brain
  • skin

Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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Footnotes

  • Handling editor Vikram Deshpande.

  • Contributors ASB, GSV and NVZ consulted the patients and collected the clinical data, ISM, TOK and EEA performed the samples preparation and laboratory research, DNM, JS, ISM, TOK, ERT and IOS performed the bioinformatic analysis, IYB contributed to the genetic analysis, JS, DND and DT contributed to the conception and study design, ASB, DNM and AAB wrote the article and prepared it to publication. JS is responsible for the overall content as the guarantor.

  • Funding The work was supported by Ministry of Health of the Russian Federation, state assignment # 122030300377-6.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.