Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia
-
Francisca Moreno Macián
,
Carmen De Mingo Alemany
Abstract
Objectives
Hyperinsulinemic hypoglucemia (HH) is characterized by a dysregulation of insulin secretion from pancreatic β cells. Congenital hyperinsulinism has been associated with specific genes in monogenic forms and also with other diseases with a yet unknown genetic cause. In 2017, Rubio Cabezas et al. described the association of HH and autosomal recessive polycystic kidney disease (ARPKD) with a promoter mutation in the PMM2 gene. They found that all the patients carried a promoter mutation (c-167G>T) in PMM2, either homozygous or in trans with a second PMM2 coding mutation.
Methods
We performed the study of the PMM2 gene in six patients from four unrelated families, previously diagnosed with ARPKD and HH.
Results
All these patients had in common the heterozygous variant c-167G>T in the promoter region for PMM2. Additionally, each patient carried a compound heterozygote for a second missense mutation in this gene (p.Arg141His, p.Asp148Asn or p.Phe157Ser), previously reported as pathogenic for congenital disorder of glycosylation type Ia, with an autosomal recessive inheritance pattern. Unlike the previous published article, two of our patients showed altered type 1 pattern and one of them with rectal bleeding that could be a sign of PMM2-congenital disorders of glycosylation.
Conclusion
We propose the study of this gene when carrying out the diagnosis of patients with HH, especially in the neonatal period and when a recessive polycystic kidney disease without alterations in PKDH1 is diagnosed.
Research funding: None declared.
Author contributions: All authors have individually contributed to this manuscript and have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: The authors declare that there is no conflict of interest regarding the publication of this article.
Ethical statements: The authors declare that verbal and written informed consent was obtained from the patients or legally authorized representatives in case there were minors.
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Articles in the same Issue
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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
