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桑菲利波B型综合征：来自日本冲绳岛的5名α-N-乙酰氨基葡萄糖苷酶基因存在R565P纯合突变的患者。

Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.

作者信息

Chinen Yasutsugu, Tohma Takaya, Izumikawa Yoshinori, Uehara Hiroyuki, Ohta Takao

机构信息

Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0125, Japan.

出版信息

J Hum Genet. 2005;50(7):357-359. doi: 10.1007/s10038-005-0258-4. Epub 2005 Jun 3.

DOI:10.1007/s10038-005-0258-4
PMID:15933803
Abstract

Sanfilippo type B syndrome (mucopolysaccharidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder that is caused by defective alpha- N-acetylglucosaminidase (NAGLU). We performed NAGLU gene analysis in five patients with MPS IIIB whose respective parents from the Okinawa islands in Japan were not apparently consanguineous. We found a missense mutation (R565P) in all five patients (all homozygotes). We screened this mutation in 200 healthy subjects and found one heterozygote (none of the subjects were related to the patients). These results suggest that there may be a founder effect that results in the accumulation of R565P mutation in this area.

摘要

桑菲利波B型综合征（黏多糖贮积症IIIB型；MPS IIIB）是一种常染色体隐性溶酶体贮积病，由α-N-乙酰氨基葡萄糖苷酶（NAGLU）缺陷引起。我们对5例MPS IIIB患者进行了NAGLU基因分析，这些患者来自日本冲绳岛，其各自的父母并无明显血缘关系。我们在所有5例患者（均为纯合子）中发现了一个错义突变（R565P）。我们在200名健康受试者中筛查了该突变，发现1名杂合子（所有受试者均与患者无亲缘关系）。这些结果表明，可能存在奠基者效应，导致该区域R565P突变的积累。

相似文献

1
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.桑菲利波B型综合征：来自日本冲绳岛的5名α-N-乙酰氨基葡萄糖苷酶基因存在R565P纯合突变的患者。
J Hum Genet. 2005;50(7):357-359. doi: 10.1007/s10038-005-0258-4. Epub 2005 Jun 3.
2
Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.对来自六个无关家庭的七名日本黏多糖贮积症IIIB型（Sanfilippo B型）患者的α-N-乙酰氨基葡萄糖苷酶基因进行分子分析，其中包括两个新突变。
J Hum Genet. 2002;47(9):484-7. doi: 10.1007/s100380200070.
3
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.IIIB型粘多糖贮积症（Sanfilippo B型）：18种新型α-N-乙酰氨基葡萄糖苷酶基因突变的鉴定
J Med Genet. 1999 Jan;36(1):28-31.
4
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).在14例B型Sanfilippo综合征（ⅢB型黏多糖贮积症）患者中鉴定出α-N-乙酰氨基葡萄糖苷酶基因的12种新突变。
J Med Genet. 1998 Nov;35(11):910-4. doi: 10.1136/jmg.35.11.910.
5
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).鉴定并分析一名黏多糖贮积症 IIIB 型（Sanfilippo 型 B 综合征）患者的 alpha-N-乙酰葡糖胺糖苷酶基因中的新型纯合缺失。
Mol Genet Metab. 2010 May;100(1):51-6. doi: 10.1016/j.ymgme.2010.01.004. Epub 2010 Jan 15.
6
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Genomics. 2001 Jun 15;74(3):299-305. doi: 10.1006/geno.2001.6552.
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[Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].[黏多糖贮积症 III 型（Sanfilippo 综合征）的产后及产前诊断]
Zhonghua Er Ke Za Zhi. 2008 Jun;46(6):407-10.
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Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.黏多糖贮积症IIIB型与轻度骨骼异常：中国一个家族中同一患者存在NAGLU和CYP26B1错义变异
BMC Med Genet. 2018 Apr 2;19(1):51. doi: 10.1186/s12881-018-0562-4.
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Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.携 NAGLU 基因 c.638C>T/c.889C>T（p.Pro213Leu/p.Arg297Ter）突变的 Sanfilippo 综合征 B 患者表现出非典型的轻微表型。
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本文引用的文献

1
Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.对来自六个无关家庭的七名日本黏多糖贮积症IIIB型（Sanfilippo B型）患者的α-N-乙酰氨基葡萄糖苷酶基因进行分子分析，其中包括两个新突变。
J Hum Genet. 2002;47(9):484-7. doi: 10.1007/s100380200070.
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Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.意大利桑菲利波B型患者α-N-乙酰氨基葡萄糖苷酶基因的分子缺陷
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Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
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4
Avoiding diagnostic delay for mucopolysaccharidosis IIIB: do not overlook common clues such as wheezing and otitis media.避免ⅢB型黏多糖贮积症的诊断延迟：不要忽视喘息和中耳炎等常见线索。
BMJ Case Rep. 2018 Jul 25;2018:bcr-2018-224412. doi: 10.1136/bcr-2018-224412.
5
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.成纤维细胞中残留的N-乙酰-α-葡萄糖苷酶活性与IIIB型黏多糖贮积症患者的疾病严重程度相关。
J Inherit Metab Dis. 2016 May;39(3):437-445. doi: 10.1007/s10545-016-9916-2. Epub 2016 Feb 23.
6
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.针对一例特发性进行性认知衰退的奇特病例的“基因型优先”方法。
BMC Med Genomics. 2014 Dec 3;7:66. doi: 10.1186/s12920-014-0066-9.
7
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.利用自动化高通量质谱法进行新型硫酸乙酰肝素检测：在黏多糖贮积症监测与筛查中的应用
Mol Genet Metab. 2014 Sep-Oct;113(1-2):92-9. doi: 10.1016/j.ymgme.2014.07.008. Epub 2014 Jul 21.
8
Glucocerebrosidase is shaking up the synucleinopathies.葡萄糖脑苷脂酶正在颠覆神经核蛋白病领域。
Brain. 2014 May;137(Pt 5):1304-22. doi: 10.1093/brain/awu002. Epub 2014 Feb 14.
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Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.黏多糖贮积症 IIIB 型可能主要表现为临床表型较轻。
J Inherit Metab Dis. 2010 Dec;33(6):759-67. doi: 10.1007/s10545-010-9199-y. Epub 2010 Sep 18.
桑菲利波B型综合征（粘多糖贮积症IIIB型）：等位基因异质性与广泛的临床表型相对应。
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Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.IIIB型粘多糖贮积症（Sanfilippo B型）：18种新型α-N-乙酰氨基葡萄糖苷酶基因突变的鉴定
J Med Genet. 1999 Jan;36(1):28-31.
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Prevalence of lysosomal storage disorders.溶酶体贮积症的患病率。
JAMA. 1999 Jan 20;281(3):249-54. doi: 10.1001/jama.281.3.249.
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Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).在14例B型Sanfilippo综合征（ⅢB型黏多糖贮积症）患者中鉴定出α-N-乙酰氨基葡萄糖苷酶基因的12种新突变。
J Med Genet. 1998 Nov;35(11):910-4. doi: 10.1136/jmg.35.11.910.
7
NAGLU mutations underlying Sanfilippo syndrome type B.导致B型Sanfilippo综合征的NAGLU基因突变。
Am J Hum Genet. 1998 Jan;62(1):64-9. doi: 10.1086/301685.
8
Genotype-phenotype correspondence in Sanfilippo syndrome type B.B型Sanfilippo综合征的基因型-表型对应关系。
Am J Hum Genet. 1998 Jan;62(1):53-63. doi: 10.1086/301682.
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Incidence of the mucopolysaccharidoses in Northern Ireland.北爱尔兰黏多糖贮积症的发病率。
Hum Genet. 1997 Dec;101(3):355-8. doi: 10.1007/s004390050641.
10
Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B).桑德霍夫病（黏多糖贮积症 III B 型）相关基因的克隆与表达
Hum Mol Genet. 1996 Jun;5(6):771-7. doi: 10.1093/hmg/5.6.771.