Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2024-06-01 Epub Date: 2024-01-16 DOI:10.1159/000535888

Bilge Noyan, Nursel H Elcioglu, Abdellah Tebani, Soumeya Bekri

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引用次数: 0

Abstract

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.

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土耳其系列粘多糖病 3A 型和 3B 型的临床和分子特征。

导言桑菲利波综合征或粘多糖病 3 型（MPS-3）是一种罕见病，其流行病学数据仍未确定。MPS-3 与参与硫酸肝素降解的酶缺乏有关。这种生物大分子具有神经毒性，它的积累是该病导致严重中枢神经系统变性的基础。报告了确诊时和随访期间的临床数据以及分子特征：结果：在 SGSH 和 NAGLU 基因序列中分别发现了两个和十个不同的变体。六个变体（NAGLU NM_000263.3:c.532-?_c.764+?C>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）和 6 个新发现（SGSH NM_000199.4：c.80T>G、SGSH NM_000199.4：c.7_16del、NAGLU NM dises_000263.3：c.7_16del）。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变异可能是由创始效应引起的：结论：由于土耳其的近亲结婚率较高，桑菲利波综合征的发病率可能高于全球其他人群。我们的研究结果有助于确定土耳其罕见病的特征，并提高我们对 MPS-3 疾病的临床、分子和流行病学方面的认识。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

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.