{"title":"戈歇综合征：六例报告和伊朗患者基因突变的回顾。","authors":"Mohammad Miryounesi, Mohadeseh Fathi, Sheyda Khalilian, Faezeh Sherafat, Soudeh Ghafouri-Fard, Shadab Salehpour","doi":"10.1007/s10048-025-00853-4","DOIUrl":null,"url":null,"abstract":"<p><p>Gaucher disease (GD) is a lysosomal storage disorder with an autosomal recessive inheritance pattern. The clinical manifestation of the GD arises from lack of appropriate metabolism of a fatty substance called glucocerebroside, predominantly within the lysosomes of monocyte and macrophage cells. Using whole exome sequencing, we found the genetic basis of GD in six Iranian patients. All cases had consanguineous parents. Developmental regression, hepatosplenomegaly and motor delay were the most common signs of these cases. The pathogenic p.L483P (c.1448T > C) variant was found in three patients. Other cases were found to be homozygote for p.D448H (c.1342G > C), p.S235P (c.703T > C) and p.N409S (c.1226 A > G) variants, respectively. This study demonstrates the prevalence of a pathogenic GBA variant among Iranian patients. This information can facilitate molecular diagnosis of GD with lower cost.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"73"},"PeriodicalIF":1.2000,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.\",\"authors\":\"Mohammad Miryounesi, Mohadeseh Fathi, Sheyda Khalilian, Faezeh Sherafat, Soudeh Ghafouri-Fard, Shadab Salehpour\",\"doi\":\"10.1007/s10048-025-00853-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Gaucher disease (GD) is a lysosomal storage disorder with an autosomal recessive inheritance pattern. The clinical manifestation of the GD arises from lack of appropriate metabolism of a fatty substance called glucocerebroside, predominantly within the lysosomes of monocyte and macrophage cells. Using whole exome sequencing, we found the genetic basis of GD in six Iranian patients. All cases had consanguineous parents. Developmental regression, hepatosplenomegaly and motor delay were the most common signs of these cases. The pathogenic p.L483P (c.1448T > C) variant was found in three patients. Other cases were found to be homozygote for p.D448H (c.1342G > C), p.S235P (c.703T > C) and p.N409S (c.1226 A > G) variants, respectively. This study demonstrates the prevalence of a pathogenic GBA variant among Iranian patients. This information can facilitate molecular diagnosis of GD with lower cost.</p>\",\"PeriodicalId\":56106,\"journal\":{\"name\":\"Neurogenetics\",\"volume\":\"26 1\",\"pages\":\"73\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2025-10-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurogenetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10048-025-00853-4\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurogenetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10048-025-00853-4","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.
Gaucher disease (GD) is a lysosomal storage disorder with an autosomal recessive inheritance pattern. The clinical manifestation of the GD arises from lack of appropriate metabolism of a fatty substance called glucocerebroside, predominantly within the lysosomes of monocyte and macrophage cells. Using whole exome sequencing, we found the genetic basis of GD in six Iranian patients. All cases had consanguineous parents. Developmental regression, hepatosplenomegaly and motor delay were the most common signs of these cases. The pathogenic p.L483P (c.1448T > C) variant was found in three patients. Other cases were found to be homozygote for p.D448H (c.1342G > C), p.S235P (c.703T > C) and p.N409S (c.1226 A > G) variants, respectively. This study demonstrates the prevalence of a pathogenic GBA variant among Iranian patients. This information can facilitate molecular diagnosis of GD with lower cost.
期刊介绍：
Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry.
All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.
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