Bilge Noyan, Nursel H Elcioglu, Abdellah Tebani, Soumeya Bekri
{"title":"土耳其系列粘多糖病 3A 型和 3B 型的临床和分子特征。","authors":"Bilge Noyan, Nursel H Elcioglu, Abdellah Tebani, Soumeya Bekri","doi":"10.1159/000535888","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Sanfilippo syndrome or mucopolysaccharidosis type 3 (MPS-3) is a rare condition and its epidemiological data are still not defined. MPS-3 is linked to a deficiency in enzymes involved in heparan sulfate degradation. This biomolecule is neurotoxic and its accumulation underlies the severe central nervous system degeneration observed in this disease.</p><p><strong>Methods: </strong>Here, we describe 15 Turkish patients with MPS-3A or MPS-3B subtypes. Clinical data upon the diagnosis and during the follow-up as well as molecular characterization are reported.</p><p><strong>Results: </strong>Two and ten distinct variants were identified in <i>SGSH</i> and <i>NAGLU</i> gene sequences, respectively. Six variants (<i>NAGLU</i> NM_000263.3:c.532-?_c.764+?del, NAGLU NM_000263.3: c.509G>T, <i>NAGLU</i> NM_000263.3: c.700C>G, <i>NAGLU</i> NM_000263.3:c.507_516 del, <i>NAGLU</i> NM dises_000263.3: c.1354 G>A, <i>NAGLU</i> NM_000263.3: c.200T>C) have been previously published and 6 are novel (<i>SGSH</i> NM_000199.4: c.80T>G, <i>SGSH</i> NM_000199.4: c.7_16del, <i>NAGLU</i> NM_000263.3: c.224_235del, <i>NAGLU</i> NM_000263.3: c.904G>T, <i>NAGLU</i> NM_000263.3: c.626C>T, <i>NAGLU</i> NM_000263.3: c.1241A>G). <i>SGSH</i> NM_000199.4:c.7_16del variation might be caused by a founder effect.</p><p><strong>Conclusion: </strong>Due to the high rate of consanguinity in Turkey, the incidence of Sanfilippo syndrome might be higher compared to other populations worldwide. Our results contribute to the characterization of rare diseases in Turkey and to improve our knowledge of the clinical, molecular, and epidemiological aspects of MPS-3 disease.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"15 3","pages":"194-201"},"PeriodicalIF":0.9000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11149969/pdf/","citationCount":"0","resultStr":"{\"title\":\"Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.\",\"authors\":\"Bilge Noyan, Nursel H Elcioglu, Abdellah Tebani, Soumeya Bekri\",\"doi\":\"10.1159/000535888\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Sanfilippo syndrome or mucopolysaccharidosis type 3 (MPS-3) is a rare condition and its epidemiological data are still not defined. MPS-3 is linked to a deficiency in enzymes involved in heparan sulfate degradation. This biomolecule is neurotoxic and its accumulation underlies the severe central nervous system degeneration observed in this disease.</p><p><strong>Methods: </strong>Here, we describe 15 Turkish patients with MPS-3A or MPS-3B subtypes. Clinical data upon the diagnosis and during the follow-up as well as molecular characterization are reported.</p><p><strong>Results: </strong>Two and ten distinct variants were identified in <i>SGSH</i> and <i>NAGLU</i> gene sequences, respectively. Six variants (<i>NAGLU</i> NM_000263.3:c.532-?_c.764+?del, NAGLU NM_000263.3: c.509G>T, <i>NAGLU</i> NM_000263.3: c.700C>G, <i>NAGLU</i> NM_000263.3:c.507_516 del, <i>NAGLU</i> NM dises_000263.3: c.1354 G>A, <i>NAGLU</i> NM_000263.3: c.200T>C) have been previously published and 6 are novel (<i>SGSH</i> NM_000199.4: c.80T>G, <i>SGSH</i> NM_000199.4: c.7_16del, <i>NAGLU</i> NM_000263.3: c.224_235del, <i>NAGLU</i> NM_000263.3: c.904G>T, <i>NAGLU</i> NM_000263.3: c.626C>T, <i>NAGLU</i> NM_000263.3: c.1241A>G). <i>SGSH</i> NM_000199.4:c.7_16del variation might be caused by a founder effect.</p><p><strong>Conclusion: </strong>Due to the high rate of consanguinity in Turkey, the incidence of Sanfilippo syndrome might be higher compared to other populations worldwide. Our results contribute to the characterization of rare diseases in Turkey and to improve our knowledge of the clinical, molecular, and epidemiological aspects of MPS-3 disease.</p>\",\"PeriodicalId\":48566,\"journal\":{\"name\":\"Molecular Syndromology\",\"volume\":\"15 3\",\"pages\":\"194-201\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11149969/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Syndromology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1159/000535888\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/16 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000535888","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/16 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.
Introduction: Sanfilippo syndrome or mucopolysaccharidosis type 3 (MPS-3) is a rare condition and its epidemiological data are still not defined. MPS-3 is linked to a deficiency in enzymes involved in heparan sulfate degradation. This biomolecule is neurotoxic and its accumulation underlies the severe central nervous system degeneration observed in this disease.
Methods: Here, we describe 15 Turkish patients with MPS-3A or MPS-3B subtypes. Clinical data upon the diagnosis and during the follow-up as well as molecular characterization are reported.
Results: Two and ten distinct variants were identified in SGSH and NAGLU gene sequences, respectively. Six variants (NAGLU NM_000263.3:c.532-?_c.764+?del, NAGLU NM_000263.3: c.509G>T, NAGLU NM_000263.3: c.700C>G, NAGLU NM_000263.3:c.507_516 del, NAGLU NM dises_000263.3: c.1354 G>A, NAGLU NM_000263.3: c.200T>C) have been previously published and 6 are novel (SGSH NM_000199.4: c.80T>G, SGSH NM_000199.4: c.7_16del, NAGLU NM_000263.3: c.224_235del, NAGLU NM_000263.3: c.904G>T, NAGLU NM_000263.3: c.626C>T, NAGLU NM_000263.3: c.1241A>G). SGSH NM_000199.4:c.7_16del variation might be caused by a founder effect.
Conclusion: Due to the high rate of consanguinity in Turkey, the incidence of Sanfilippo syndrome might be higher compared to other populations worldwide. Our results contribute to the characterization of rare diseases in Turkey and to improve our knowledge of the clinical, molecular, and epidemiological aspects of MPS-3 disease.
期刊介绍：
''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.
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