A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report

被引:0
作者
Kamranjam, Mana [1 ]
Hosseini, Seyedeh Maryam [1 ]
Alaei, Mohammadreza [2 ]
机构
[1] Special Med Ctr, Dept Med Genet, Nejatollahi St,Englab Ave, Tehran 1599666615, Iran
[2] Shahid Beheshti Univ Med Sci, Fac Med, Dept Pediat Endocrinol, Tehran, Iran
关键词
mucopolysaccharidosis type 1; lysosomal storage disorder; alpha-l-iduronidase; mutation; MUCOPOLYSACCHARIDOSIS TYPE-I; ALPHA-L-IDURONIDASE; IDUA; IDENTIFICATION;
D O I
10.1055/s-0039-1685190
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Mucopolysaccharidosis 1 (MPS1) is a rare inherited lysosomal storage disorder resulting from the absence or reduction of lysosomal alpha-l-iduronidase due to mutations in the IDUA gene. Three major clinical manifestations have been established including Hurler's or severe type (OMIM 607914), Hurler-Scheie or intermediate type (MIM 607914) and Scheie's or attenuated type (MIM 607016). In the present study, a patient whose disease was diagnosed by biochemical and enzymatic assay was studied in our laboratory. Molecular analysis implemented by PCR-sequencing of all 14 exons and exon-intron junctions confirmed a novel deleterious mutation in a homozygous state. The result of this study has broadened the genotypic spectrum of MPS1 patients, assisting in a more effective approach for carrier testing and counseling.
引用
收藏
页码:212 / 217
页数:6
相关论文
共 50 条
[41]   A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report [J].
Shi, Yunfang ;
Li, Xiaozhou ;
Ju, Duan ;
Li, Yan ;
Zhang, Xiuling ;
Zhang, Ying .
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2016, 11 (04) :1516-1518
[42]   A novel frameshift mutation in the NHS gene causes Nance-Horan syndrome in a Chinese family [J].
Wen, Huaming ;
Li, Qianwen ;
Mei, Shaoyi ;
Cai, Jiamin ;
Huang, Xiaosheng ;
Zhao, Jun .
GENE, 2024, 907
[43]   Hurler–Scheie syndrome in Niger: a case series [J].
Hamid Assadeck ;
Moussa Toudou Daouda ;
Harouna Bako ;
Fatimata Hassane Djibo .
Journal of Medical Case Reports, 13
[44]   Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1 [J].
Duan, Lian ;
Li, Qian ;
Tong, An-Li ;
Mao, Jiang-Feng ;
Yu, Miao ;
Yuan, Tao ;
Chai, Xiao-Feng ;
Gu, Feng .
FRONTIERS IN ENDOCRINOLOGY, 2018, 9
[45]   A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX 10 [J].
Suzuki, Noriomi ;
Mutai, Hideki ;
Miya, Fuyuki ;
Tsunoda, Tatsuhiko ;
Terashima, Hiroshi ;
Morimoto, Noriko ;
Matsunaga, Tatsuo .
BMC PEDIATRICS, 2018, 18
[46]   A Novel SLC9A6 Mutation Associated with Christianson Syndrome in a Non-Consanguineous Iranian Family: A Case Report [J].
Hashemipour, Mehdi ;
Neissi, Mostafa ;
Rashid, Mahsa ;
Sevari, Karim ;
Sheikh-Hosseini, Motahareh ;
Al-Badran, Adnan Issa .
INTERNATIONAL JOURNAL OF BIOMEDICINE, 2024, 14 (03) :536-540
[47]   Case Report: An inherited APC mutation in the first reported Australian case of Turcot's syndrome [J].
Tomaras, C ;
Painter, DM ;
Basha, NJ ;
Koorey, DJ .
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 1998, 13 (04) :401-404
[48]   A Novel Homozygous Frameshift Mutation in ITGB3 Causes Glanzmann's Thrombasthenia [J].
Li, XueHong ;
Xu, Jing ;
Li, ZhenJiang ;
Song, Yuan ;
Fei, Yan ;
Yang, GuiLin ;
Tang, AiPing .
ACTA HAEMATOLOGICA, 2022, 145 (01) :78-83
[49]   A Case Report of Capecitabine-Associated Bowel Inflammation With a Novel Mutation of the DPYD Gene [J].
Sehlager, Lukas ;
Woeran, Katharina ;
Luhn, Helena ;
Stift, Anton ;
Hatpain, Felix .
AJSP-REVIEWS AND REPORTS, 2020, 25 (04) :E8-E12
[50]   Case report: A novel homozygous variant in ZP3 is associated with human empty follicle syndrome [J].
Kong, Na ;
Xu, Qian ;
Shen, Xiaoyue ;
Zhu, Xiangyu ;
Cao, Guangyi .
FRONTIERS IN GENETICS, 2023, 14