medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2026.06.46-54medgen-3477Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHАнализ случаев синдрома Нунан, выявленных в выборках пациентов с нарушениями слухаAnalysis of Noonan syndrome cases detected in cohorts of patients with hearing lossЧердоноваА. М.CherdonovaA. M.

677000, г. Якутск, ул. Белинского, д. 58

58 Belinskogo str., Yakutsk, 677000

БорисоваТ. В.BorisovaT. V.

677000, г. Якутск, ул. Белинского, д. 58

58 Belinskogo str., Yakutsk, 677000

ТерютинФ. М.TeryutinF. M.

677018, г. Якутск, ул. Ярославского, д. 6/3

6/3 Yaroslavskogo str., Yakutsk, 677018

ПшенниковаВ. Г.PshennikovaV. G.

677018, г. Якутск, ул. Ярославского, д. 6/3

6/3 Yaroslavskogo str., Yakutsk, 677018

СоловьевА. В.SolovyevA. V.

677000, г. Якутск, ул. Белинского, д. 58

58 Belinskogo str., Yakutsk, 677000

ФедороваС. А.FedorovaS. A.

677000, г. Якутск, ул. Белинского, д. 58

58 Belinskogo str., Yakutsk, 677000

БарашковН. А.BarashkovN. A.

677018, г. Якутск, ул. Ярославского, д. 6/3

6/3 Yaroslavskogo str., Yakutsk, 677018

barashkov2004@mail.ruФГАОУ ВО Северо-Восточный федеральный университет им. М.К. АммосоваРоссияM.K. Ammosov North-Eastern Federal UniversityRussian FederationФГБНУ Якутский научный центр комплексных медицинских проблемРоссияYakut Scientific Center of Complex Medical ProblemsRussian Federation2026100720262564654Copyright © Чердонова А.М., Борисова Т.В., Терютин Ф.М., Пшенникова В.Г., Соловьев А.В., Федорова С.А., Барашков Н.А., 20262026Чердонова А.М., Борисова Т.В., Терютин Ф.М., Пшенникова В.Г., Соловьев А.В., Федорова С.А., Барашков Н.А.Cherdonova A.M., Borisova T.V., Teryutin F.M., Pshennikova V.G., Solovyev A.V., Fedorova S.A., Barashkov 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://www.medgen-journal.ru/jour/article/view/3477

Синдром Нунан (СН) является мультисистемным заболеванием, вызываемым патогенными вариантами в генах, участвующих в RAS/MAPK сигнальном пути, при этом патогенные/вероятно патогенные варианты гена PTPN11 являются основными каузативными вариантами при данном синдроме. Клиническая картина СН включает широкий спектр проявлений, включая дисморфизм лица, аномалии скелета, пороки сердца, нарушения пигментации и интеллектуального развития, крипторхизм и снижение остроты слуха. Частота врожденной сенсоневральной тугоухости тяжелой степени и глухоты в выборках пациентов с СН варьирует от 8,7% до 19,1%. С появлением методов высокопроизводительного секвенирования мутации гена PTPN11 все чаще стали обнаруживаться в нецелевых выборках пациентов с несиндромальной потерей слуха. В настоящей работе описывается случай ранее не диагностированного синдрома СН с множественнными лентиго, выявленный при каскадном тестировании, включающем WES-анализ, в выборке бурятских пациентов с врожденными нарушениями слуха. В статье обсуждаются аналогичные случаи идентификации патогенных вариантов в гене PTPN11, выявленных в выборках пациентов с несиндромальной тугоухостью/глухотой.

Noonan syndrome (NS) is a multisystem disease caused by pathogenic variants in genes involved in the RAS/MAPK signaling pathway, with pathogenic/likely pathogenic variants of the PTPN11 gene being the main causative variants in this syndrome. The clinical picture of NS includes a wide range of pathologies, including: facial dysmorphism, growth retardation, heart defects, pigmentation and intellectual development disorders, cryptorchidism, and hearing loss. The incidence of severe congenital sensorineural hearing loss and deafness in the samples of patients with NS varies from 8.7% to 19.1%. With the advent of high-throughput sequencing methods, mutations of the PTPN11 gene have increasingly become detected in non-target samples of patients with nonsyndromic hearing loss. This paper describes a case of previously undiagnosed Noonan syndrome with multiple lentiginious, identified by cascade testing, including WES analysis, in a sample of Buryat patients with congenital hearing disorders. The article discusses similar cases of identification of pathogenic variants in the PTPN11 gene identified in samples of patients with nonsyndromic hearing loss/deafness.

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The authors declare that there are no conflicts of interest present.