Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press46310.17650/2222-8721-2021-11-3-64-68CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРAymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF geneСиндром Айме–Грипп у российского пациента с вновь выявленной мутацией в гене MAFhttps://orcid.org/0000-0001-5602-2805DadaliE. L.ДадалиЕ. Л.
Russian Federation

Elena L. Dadali

1 Moskvorechye St., Moscow 115522

Елена Леонидовна Дадали

115522 Москва, ул. Москворечье, 1

 

genclinic@yandex.ruhttps://orcid.org/0000-0002-2672-6294MarkovaT. V.МарковаТ. В.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

https://orcid.org/0000-0003-1285-9093RyzhkovaO. P.РыжковаО. П.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

Research Centre for Medical GeneticsФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова» Минобрнауки России1412202111364681312202113122021Copyright ©; 2021, Dadali E.L., Markova T.V., Ryzhkova O.P.Copyright ©; 2021, Дадали Е.Л., Маркова Т.В., Рыжкова О.П.2021Dadali E.L., Markova T.V., Ryzhkova O.P.Дадали Е.Л., Маркова Т.В., Рыжкова О.П.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/463

Aymé–Gripp syndrome is a rare autosomal dominant syndrome caused by mutations in the MAF gene and is characterized by a pronounced phenotypic polymorphism. The core of clinical signs consists of congenital cataracts, sensorineural hearing loss, specific dysmorphic facial features and intellectual disabilities. With varying frequency, patients have: radioulnar synostosis, Arnold–Chiari malformation, aseptic pericarditis, dental anomaly and osteoarthritis. The article presents the clinical and genetic characteristics of the first Russian patient with Aymé–Gripp syndrome caused by a newly identified mutation s.173C>A (p.Thr58Asn NM_005360.4) in a heterozygous state in the MAF gene. The influence of the lo  calization and type of amino acid substitutions in the protein product of the gene on the severity and specificity of the clinical manifestations of the syndrome is discussed.

 

Синдром Айме–Грипп – редкое аутосомно-доминантное заболевание, обусловленное мутациями в гене MAF, которое характеризуется выраженным фенотипическим полиморфизмом. Ядро клинических признаков состоит из врожденной катаракты, нейросенсорной тугоухости, специфических дизморфических черт строения лица и интеллектуального дефицита. С различной частотой у пациентов отмечаются радиоульнарный синостоз, аномалия Арнольда– Киари, асептический перикардит, аномалия зубов и остеоартриты. Представлены клинико-генетические характеристики первой российской пациентки с синдромом Айме–Грипп, обусловленным вновь выявленной мутацией с.173С>А (p.Thr58Asn NM_005360.4) в гетерозиготном состоянии в гене MAF. Обсуждается влияние локализации и типа аминокислотных замен в белковом продукте гена на тяжесть и специфику клинических проявлений синдрома.

 

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