ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2021.76.28ymj-612Research ArticleТОЧКА ЗРЕНИЯPOINT OF VIEWСлучай синдрома Ваарденбурга II типа, обусловленного нонсенс-вариантом гена MITF в контексте гипотезы эпигенетического мозаицизмаThe case of Waardenburg syndrome type II caused of nonsense-variant of the MITF gene in the context of the epigenetic mosaicism hypothesishttps://orcid.org/0000-0002-8659-0886ТерютинФ. М.TeryutinF. M.

Терютин Федор Михайлович – к.м.н., с.н.с.

Teryutin Fedor Mikhailovich – MD, senior researche

rest26@mail.ruhttps://orcid.org/0000-0002-6984-7934БарашковН. А.BarashkovN. A.

Барашков Николай Алексеевич – к.б.н., руковод. лаб.

Barashkov Nikolay Alekseevich – PhD, head of laboratory

barashkov2004@mail.ruЛебедеваН. А.LebedevaN. A.

Лебедева Наталья Афанасьевна – к.м.н.

Lebedeva Natalia Afanasyevna – MD

lebedeva-lor@mail.ruЯНЦ КМПРоссияFSBSI YSC CMPRussian FederationМедицинский институт СВФУ им. М.К. АммосоваРоссияMedical Institute FSASI NEFU named after M.K. AmmosovRussian Federation20210405202504118119Copyright © Терютин Ф.М., Барашков Н.А., Лебедева Н.А., 20252025Терютин Ф.М., Барашков Н.А., Лебедева Н.А.Teryutin F.M., Barashkov N.A., Lebedeva N.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/612

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синдром Ваарденбургагетерохромия радужкиMITFэпигенетикамозаицизмWaardenburg syndromeiris heterochromiaMITFepigeneticmosaicismРабота проводилась в НИР ЯНЦ КМП «Изучение генетической структуры и груза наследственной патологии популяций Республики Саха (Якутия)» и госзадания Министерства науки и высшего образования РФ (FSRG-2020-0016), а также при поддержке гранта РФФИ 20-015-00328_А.The work was done within Yakutsk scientific center for complex medical problems "Study of the genetic structure and burden of hereditary pathology of populations of the Republic of Sakha (Yakutia)", the base part of a state assignment of the Ministry of Science and Higher Education of the Russian Federation (FSRG-2020-0016) and RFBR 20-015-00328_А.ReferencesA rare case of Waardenburg syndrome with unilateral hearing loss caused by non-sense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia) / N.A. Barashkov, G.P. Romanov, U.P. Borisova [et al.] // International journal of circumpolar health. 2019; vol. 78, 1630219. DOI: 10.1080/22423982.2019.1630219A rare case of Waardenburg syndrome with unilateral hearing loss caused by non-sense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia) / N.A. Barashkov, G.P. Romanov, U.P. Borisova [et al.] // International journal of circumpolar health. 2019; vol. 78, 1630219. DOI: 10.1080/22423982.2019.1630219Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II / S. Yang, P. Dai, X. Liu [et al.] // PLoS One. 2013; Oct 23;8(10):e77149. DOI: 10.1371/journal.pone.0077149Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II / S. Yang, P. Dai, X. Liu [et al.] // PLoS One. 2013; Oct 23;8(10):e77149. DOI: 10.1371/journal.pone.0077149Happle R. Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism? / R. Happle // Am J Med Genet. 2021; 185A:1304–1306. DOI: 10.1002/ajmg.a.62075Happle R. Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism? / R. Happle // Am J Med Genet. 2021; 185A:1304–1306. DOI: 10.1002/ajmg.a.62075Hearing loss in Waardenburg syndrome: a systematic review / J. Song, Y. Feng, F.R. Acke [et al.] // Clin. Genet. 2016; V. 89. Issue 4. P.416-425. DOI: 10.1111/cge.12631Hearing loss in Waardenburg syndrome: a systematic review / J. Song, Y. Feng, F.R. Acke [et al.] // Clin. Genet. 2016; V. 89. Issue 4. P.416-425. DOI: 10.1111/cge.12631Mutation at the an ophthalmic white locus in Syrian hamsters: haploinsuficiency in the Mitf gene mimics human Waardenburg syndrome type 2 / Hodgkinson C.A., Nakayama A., Li H. [et al.] // Hum. Mol. Genet. 1998; V.7. Issue 4. P.703–708.Mutation at the an ophthalmic white locus in Syrian hamsters: haploinsuficiency in the Mitf gene mimics human Waardenburg syndrome type 2 / Hodgkinson C.A., Nakayama A., Li H. [et al.] // Hum. Mol. Genet. 1998; V.7. Issue 4. P.703–708.Nayak C.S., Isaacson G. Worldwide distribution of Waardenburg syndrome / Nayak C.S., Isaacson G. // Ann. Otol. Rhinol. Laryngol. 2003; V.112. P.817–820. DOI: 10.1177/000348940311200913Nayak C.S., Isaacson G. Worldwide distribution of Waardenburg syndrome / Nayak C.S., Isaacson G. // Ann. Otol. Rhinol. Laryngol. 2003; V.112. P.817–820. DOI: 10.1177/000348940311200913Pigmentary disorders in association with congenital deafness / W.B. Reed, V.M. Stone, E. Boder, L. Ziprkowski // Arch. Dermatol. 1967; V.95. Issue 2. P.176–186. DOI:10.1001/archderm.1967.01600320032005Pigmentary disorders in association with congenital deafness / W.B. Reed, V.M. Stone, E. Boder, L. Ziprkowski // Arch. Dermatol. 1967; V.95. Issue 2. P.176–186. DOI:10.1001/archderm.1967.01600320032005Read A.P. Waardenburg syndrome / A.P. Read, V.E. Newton // J. Med. Genet. 1997; V.34. Issue 8. P.656–665. DOI: 10.1136/jmg.34.8.656Read A.P. Waardenburg syndrome / A.P. Read, V.E. Newton // J. Med. Genet. 1997; V.34. Issue 8. P.656–665. DOI: 10.1136/jmg.34.8.656The use of molecular cytogenetic and cytogenetic techniques for the diagnosis of Prader-Willi and Angelman syndroms / I.Y. Iourov, S.G. Vorsanova, O.S. Kurinnaya [et al.] // Journal of neurology and psychiatry. 2014; 114(1). 49-53.The use of molecular cytogenetic and cytogenetic techniques for the diagnosis of Prader-Willi and Angelman syndroms / I.Y. Iourov, S.G. Vorsanova, O.S. Kurinnaya [et al.] // Journal of neurology and psychiatry. 2014; 114(1). 49-53.The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families / Q. Liu, J. Cheng, Y. Lu [et al.] // Int. j. Pediatr. Otorinolaryngol. 2020; Mar; 130:109806. DOI: 10.1016/j.ijporl.2019.109806.The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families / Q. Liu, J. Cheng, Y. Lu [et al.] // Int. j. Pediatr. Otorinolaryngol. 2020; Mar; 130:109806. DOI: 10.1016/j.ijporl.2019.109806.Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium / L.A. Farrer, K.M. Grundfast, J. Amos [et al.] //Am. J. Hum. Genet. 1992; V.50. Issue 5. P.902–913.Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium / L.A. Farrer, K.M. Grundfast, J. Amos [et al.] //Am. J. Hum. Genet. 1992; V.50. Issue 5. P.902–913.Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations / X.-P. Wang, Y.-L. Liu, L.-Y. Mei [et al.] // Journal of Human Genetics. 2018; March. 63:639–646. DOI:10.1038/s10038-018-0425-zWnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations / X.-P. Wang, Y.-L. Liu, L.-Y. 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The authors declare that there are no conflicts of interest present.