Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population
-
Hüseyin Onay
,
Gonca Kılıç Yıldırım
Abstract
Objectives
Fabry disease (FD, OMIM #301500) is a rare and progressive X-linked lysosomal storage disorder. FD is caused by mutations in the GLA gene on chromosome Xq22.
Methods
In this article, we aimed to present the largest sample of GLA mutation spectrum including common and novel variants in Turkish population. GLA gene sequence analysis was performed on the subjects who applied to the department of medical genetics with the preliminary diagnosis of FD between 2013 and 2018.
Results
We detected 22 different mutations as two novel [(p.F69S(c.206T>C), p.P205A (c.613C>G)] and 20 previously reported GLA mutations in 47 individuals from 22 unrelated families. These mutations included 14 missense mutations, four nonsense mutations, two small deletions, one small deletion/insertion and one small insertion. Major clinical findings of the female case with p.F69S(c.206T>C) mutation were cornea verticillata, acroparesthesia, angiokeratoma, psychiatric and gastrointestinal symptoms. Other novel mutation (p.P205A [c.613C>G]) was carried by a male case presenting gastrointestinal symptoms.
Conclusions
We described clinical findings of two cases that had novel mutations to provide more insight in genotype-phenotype correlation. We presented the largest mutation spectrum in Turkish population and reviewed previous mutations in this article.
Research funding: None declared.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: This study was approved by the Ethics Committee of Ege University of Medical Sciences (protocol number 20-3T/12).
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© 2020 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Research Articles
- Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population
- Cascade screening and treatment of children with familial hypercholesterolemia in Turkey
- Risk of adrenal insufficiency following intra-articular or periarticular corticosteroid injections among children with chronic arthritis
- Vitamin D status is related to severity at onset of diabetes and worse glycemic control
- Reassessing vitamin D supplementation in preterm infants: a prospective study and review of the literature
- Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia
- Liraglutide pharmacokinetics and exposure-response in pediatric patients with type 2 diabetes
- Identification of nucleotide polymorphism within the NeuroD1 candidate gene and its association with type 1 diabetes susceptibility in Iranian people by polymerase chain reaction-restriction fragment length polymorphism
- Prevalence of autoantibodies in type 1 diabetes mellitus pediatrics in Mazandaran, North of Iran
- Clinical features of the diabetes eating problem survey–revised Turkish version in children and adolescent with type 1 diabetes
- Ambulatory blood pressure profile in office normotensive obese children: prevalence of masked hypertension and impact of parental hypertension
- Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review
- Short Communication
- Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature
- Case Reports
- ROHHAD syndrome – A still unrecognized cause of childhood obesity: report of three cases
- Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy
- Idiopathic infantile hypercalcemia: mutations in SLC34A1 and CYP24A1 in two siblings and fathers
- GCK-MODY in a child with cystic fibrosis: the doubt of the treatment plan
Articles in the same Issue
- Frontmatter
- Research Articles
- Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population
- Cascade screening and treatment of children with familial hypercholesterolemia in Turkey
- Risk of adrenal insufficiency following intra-articular or periarticular corticosteroid injections among children with chronic arthritis
- Vitamin D status is related to severity at onset of diabetes and worse glycemic control
- Reassessing vitamin D supplementation in preterm infants: a prospective study and review of the literature
- Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia
- Liraglutide pharmacokinetics and exposure-response in pediatric patients with type 2 diabetes
- Identification of nucleotide polymorphism within the NeuroD1 candidate gene and its association with type 1 diabetes susceptibility in Iranian people by polymerase chain reaction-restriction fragment length polymorphism
- Prevalence of autoantibodies in type 1 diabetes mellitus pediatrics in Mazandaran, North of Iran
- Clinical features of the diabetes eating problem survey–revised Turkish version in children and adolescent with type 1 diabetes
- Ambulatory blood pressure profile in office normotensive obese children: prevalence of masked hypertension and impact of parental hypertension
- Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review
- Short Communication
- Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature
- Case Reports
- ROHHAD syndrome – A still unrecognized cause of childhood obesity: report of three cases
- Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy
- Idiopathic infantile hypercalcemia: mutations in SLC34A1 and CYP24A1 in two siblings and fathers
- GCK-MODY in a child with cystic fibrosis: the doubt of the treatment plan
