Background: Gaucher’s disease (GD) is an autosomal recessive genetic disorder that results from pathogenic mutations of GBA gene encoding the enzyme glucocerebrosidase (acid β-glucosidase). Of the approximately 300 mutations associated with GD, 4 accounts for the majority of mutations seen in GD pat...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2017-07-01
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| Series: | Egyptian Journal of Medical Human Genetics |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1110863016300696 |
| _version_ | 1811221587133726720 |
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| author | Tahia H. Saleem Mohammed H. Hassan Ahmed El-Abd Ahmed Ayat A. Sayed Nahed A. Mohamed Khalid I. Elsayh Abdallah M.A.A. El-Ebidi Norhan B.B. Mohammed |
| author_facet | Tahia H. Saleem Mohammed H. Hassan Ahmed El-Abd Ahmed Ayat A. Sayed Nahed A. Mohamed Khalid I. Elsayh Abdallah M.A.A. El-Ebidi Norhan B.B. Mohammed |
| author_sort | Tahia H. Saleem |
| collection | DOAJ |
| description | Background: Gaucher’s disease (GD) is an autosomal recessive genetic disorder that results from pathogenic mutations of GBA gene encoding the enzyme glucocerebrosidase (acid β-glucosidase). Of the approximately 300 mutations associated with GD, 4 accounts for the majority of mutations seen in GD patients: N370S, L444P, 84 GG and IVS2+1.
Aim: Establishing and providing, clinical and molecular backgrounds of pediatric patients with GD in Upper Egypt.
Subjects and methods: The present study is a cross sectional study, carried out on 26 pediatric patients with GD. They were recruited from the pediatric outpatient clinics and inpatients Pediatric departments of Assiut and Qena University hospitals, Upper Egypt. Clinical evaluation and mutation analysis using commercially available strip assay kit after PCR amplification of the target gene were done for all included GD patients.
Results: Consanguinity between patients’ parents was present in 73.1% of the included patients. 76.9% of included patients were of type 1 GD, while 23.1% were of type 3 GD and none of our patients was classified as type 2 GD. The main frequent clinical presentations of GD in this study were hepatosplenomegaly (88.5%); pallor (76.9%); abdominal distension (61.5%) and musculoskeletal involvement (37.1%). Neurological abnormalities of type 3 GD included in this study were squint, seizures and delayed mental development. Five different genotypes were detected, homozygous for the mutation L444P, homozygous for the mutation N370S, heterozygous for the mutations N370S and rec Ncil, heterozygous for IVS2 +1 and rec NciI, heterozygous for L444P and IVS2 +1.
Conclusions: Non-neuropathic type 1 and type 3 GD were the only clinical types found in the present study. The most common mutant alleles found in this study were L444P and N370S. |
| first_indexed | 2024-04-12T08:03:11Z |
| format | Article |
| id | doaj.art-3e66f328bc664d28b65423cc66806522 |
| institution | Directory Open Access Journal |
| issn | 1110-8630 |
| language | English |
| last_indexed | 2024-04-12T08:03:11Z |
| publishDate | 2017-07-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-3e66f328bc664d28b65423cc668065222022-12-22T03:41:16ZengSpringerOpenEgyptian Journal of Medical Human Genetics1110-86302017-07-0118324925510.1016/j.ejmhg.2016.08.005Tahia H. Saleem0Mohammed H. Hassan1Ahmed El-Abd Ahmed2Ayat A. Sayed3Nahed A. Mohamed4Khalid I. Elsayh5Abdallah M.A.A. El-Ebidi6Norhan B.B. Mohammed7Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Assiut University, P.O. Box 71515, Assiut, EgyptDepartment of Medical Biochemistry and Molecular Biology, Qena Faculty of Medicine, South Valley University, P.O. Box No. 83523, Qena, EgyptDepartment of Pediatrics, Qena Faculty of Medicine, South Valley University, P.O. Box No. 83523, Qena, EgyptDepartment of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Assiut University, P.O. Box 71515, Assiut, EgyptDepartment of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Assiut University, P.O. Box 71515, Assiut, EgyptDepartment of Pediatrics, Faculty of Medicine, Assiut University, P.O. Box 71515, Assiut, EgyptDepartment of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Aswan University, P.O. Box No. 8152, Aswan, EgyptDepartment of Medical Biochemistry and Molecular Biology, Qena Faculty of Medicine, South Valley University, P.O. Box No. 83523, Qena, EgyptBackground: Gaucher’s disease (GD) is an autosomal recessive genetic disorder that results from pathogenic mutations of GBA gene encoding the enzyme glucocerebrosidase (acid β-glucosidase). Of the approximately 300 mutations associated with GD, 4 accounts for the majority of mutations seen in GD patients: N370S, L444P, 84 GG and IVS2+1. Aim: Establishing and providing, clinical and molecular backgrounds of pediatric patients with GD in Upper Egypt. Subjects and methods: The present study is a cross sectional study, carried out on 26 pediatric patients with GD. They were recruited from the pediatric outpatient clinics and inpatients Pediatric departments of Assiut and Qena University hospitals, Upper Egypt. Clinical evaluation and mutation analysis using commercially available strip assay kit after PCR amplification of the target gene were done for all included GD patients. Results: Consanguinity between patients’ parents was present in 73.1% of the included patients. 76.9% of included patients were of type 1 GD, while 23.1% were of type 3 GD and none of our patients was classified as type 2 GD. The main frequent clinical presentations of GD in this study were hepatosplenomegaly (88.5%); pallor (76.9%); abdominal distension (61.5%) and musculoskeletal involvement (37.1%). Neurological abnormalities of type 3 GD included in this study were squint, seizures and delayed mental development. Five different genotypes were detected, homozygous for the mutation L444P, homozygous for the mutation N370S, heterozygous for the mutations N370S and rec Ncil, heterozygous for IVS2 +1 and rec NciI, heterozygous for L444P and IVS2 +1. Conclusions: Non-neuropathic type 1 and type 3 GD were the only clinical types found in the present study. The most common mutant alleles found in this study were L444P and N370S.http://www.sciencedirect.com/science/article/pii/S1110863016300696Gaucher’s diseaseUpper EgyptClinical typesGenotypes |
| spellingShingle | Tahia H. Saleem Mohammed H. Hassan Ahmed El-Abd Ahmed Ayat A. Sayed Nahed A. Mohamed Khalid I. Elsayh Abdallah M.A.A. El-Ebidi Norhan B.B. Mohammed Egyptian Journal of Medical Human Genetics Gaucher’s disease Upper Egypt Clinical types Genotypes |
| topic | Gaucher’s disease Upper Egypt Clinical types Genotypes |
| url | http://www.sciencedirect.com/science/article/pii/S1110863016300696 |