A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

被引:1
作者
Jilani, Houweyda [1 ,2 ]
Hsoumi, Faten [1 ]
Rejeb, Imen [1 ]
Elaribi, Yasmina [1 ,2 ]
Hizem, Syrine [1 ,2 ]
Sebai, Molka [1 ,2 ]
Rolfs, Arndt [3 ,4 ]
Benjemaa, Lamia [1 ,2 ]
机构
[1] Mongi Slim Hosp, Genet Dept, Tunis, Tunisia
[2] Univ Tunis El Manar, Fac Med Tunis, Genet Lab, Tunis, Tunisia
[3] CENTOGENE AG, Rostock, Germany
[4] Univ Rostock, Med Fac, Rostock, Germany
来源
CLINICAL CASE REPORTS | 2022年 / 10卷 / 05期
关键词
Gaucher disease; GBA gene; p.Arg87Trp; R48W; rare pathogenic variant; MODIFIER GENES; MUTATIONS; TYPE-1; IDENTIFICATION; DIAGNOSIS; PREVALENT; REVEALS; CLN8;
D O I
10.1002/ccr3.5846
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the GBA gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the GBA gene in the Tunisian population. A female Arab patient was assessed at the age of 26 due to abdominal distension, bone pain, and headache since she was 25. Physical examination revealed splenomegaly, rib deformation, lumbar scoliosis, and upper limb tremor. Bone marrow was infiltrated by Gaucher cells. The patient was homozygous for the rare p.Arg87Trp variant which is known to be associated with a mild phenotype. This report highlights the necessity of screening the Tunisian population for this rare variant.
引用
收藏
页数:7
相关论文
共 42 条
[1]   Type 1 Gaucher Disease Significant Disease Manifestations in "Asymptomatic" Homozygotes [J].
Balwani, Manisha ;
Fuerstman, Laura ;
Kornreich, Ruth ;
Edelmann, Lisa ;
Desnick, Robert J. .
ARCHIVES OF INTERNAL MEDICINE, 2010, 170 (16) :1463-1469
[2]  
Ben Turkia Hadhami, 2010, Tunis Med, V88, P158
[3]  
Beutler E, 1996, HUM MUTAT, V8, P207, DOI 10.1002/(SICI)1098-1004(1996)8:3<207::AID-HUMU2>3.0.CO
[4]  
2-6
[5]  
BEUTLER E, 1991, NEW ENGL J MED, V325, P1354
[6]   5 NEW GAUCHER-DISEASE MUTATIONS [J].
BEUTLER, E ;
GELBART, T ;
DEMINA, A ;
ZIMRAN, A ;
LECOUTRE, P .
BLOOD CELLS MOLECULES AND DISEASES, 1995, 21 (01) :20-24
[7]  
BEUTLER E, 1991, BLOOD, V78, P1183
[8]   The risk of Parkinson's disease in type 1 Gaucher disease [J].
Bultron, Gilberto ;
Kacena, Katherine ;
Pearson, Daniel ;
Boxer, Michael ;
Yang, Ruhua ;
Sathe, Swati ;
Pastores, Gregory ;
Mistry, Pramod K. .
JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 (02) :167-173
[9]   Molecular diagnosis of Gaucher disease in Tunisia [J].
Cherif, W. ;
Ben Turkia, H. ;
Ben Rhouma, F. ;
Riahi, I. ;
Chemli, J. ;
Amaral, O. ;
Miranda, M. C. Sa ;
Caillaud, C. ;
Kaabachi, N. ;
Tebib, N. ;
Abdelhak, S. ;
Ben Dridi, M. F. .
PATHOLOGIE BIOLOGIE, 2013, 61 (02) :59-63
[10]   Gaucher disease in Tunisia: High frequency of the most common mutations [J].
Cherif, Wafa ;
Ben Turkia, Hadhami ;
Ben Rhouma, Faten ;
Riahi, Imene ;
Chemli, Jalel ;
Kefi, Rym ;
Messai, Habib ;
Amaral, Olga ;
Sa Miranda, Maria Clara ;
Caillaud, Catherine ;
Tebib, Neji ;
Ben Dridi, Marie Francoise ;
Abdelhak, Sonia .
BLOOD CELLS MOLECULES AND DISEASES, 2009, 43 (02) :161-+