Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinism

2014 ◽  
Vol 8 (1) ◽  
pp. 45-47 ◽  
Author(s):  
Radhika Jindal ◽  
Ayesha Ahmad ◽  
Mohammad Asim Siddiqui ◽  
Inderpal Singh Kochar ◽  
Subhash Kumar Wangnoo
Keyword(s):  
Novel Mutation ◽  
Congenital Hyperinsulinism ◽  
Abcc8 Gene

The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene

2020 ◽  
Vol 33 (12) ◽  
pp. 1605-1608
Author(s):  
Xiao Qin ◽  
Jingzi Zhong ◽  
Dan Lan
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Male Infant ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Rare Form ◽  
Case Presentation ◽  
Abcc8 Gene

AbstractObjectivesNeonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.Case presentationWe report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16 days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8 gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49 mg/kg/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.ConclusionsThis report improves our understanding of the mutational spectrum of ABCC8, which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.

scholarly journals Congenital Hyperinsulinism Due to a Novel Activating Glucokinase Mutation: A Case Report and Literature Review

2020 ◽  
Vol 5 (6) ◽  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Gene Mutations ◽  
In Silico Analysis ◽  
Missense Variant ◽  
Laboratory Evaluation ◽  
Congenital Hyperinsulinism ◽  
Hypoglycemic Episode ◽  
Glucokinase Mutation ◽  
Uncertain Significance

Background: Congenital Hyperinsulinism (CHI) constitutes a major cause of persistent and recurrent hypoglycemia, especially in the neonatal period, showing notable phenotypical heterogeneity among affected subjects. Activating mutations of the Glucokinase gene (GCK) are responsible for mild forms of hypoglycemia, due to CHI, usually easily medically managed. Case report: We present a patient at the age of 3.5 years old investigated for persistent hypoglycemia. Laboratory evaluation showed hyperinsulinism during the hypoglycemic episode with a required glucose infusion rate greater than 8-10 mg/kg/min to maintain normoglycemia. Targeted gene panel sequencing revealed an activating missense novel mutation p.Val71Ala in exon 3 of GCK gene, dominantly inherited by his mother. In silico, analysis of this novel missense variant assessed its pathogenicity as being of uncertain significance Conclusions: GCK gene mutations result in varying phenotypic characteristics and responsiveness to diazoxide depending on the type of activating mutation.

Identification of a novel mutation of the abcc8 gene in a greek subject with mody12

2021 ◽  
Author(s):  
Georgia Kanti ◽  
Labrini Papanastasiou ◽  
Amalia Sertedaki ◽  
Spyridoula Glikofridi ◽  
Christina Kanaka Gantenbein ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Abcc8 Gene

A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA)

2016 ◽  
Vol 29 (3) ◽  
Author(s):  
Chen Fang ◽  
Xin Ding ◽  
Yun Huang ◽  
Jian Huang ◽  
Pengjun Zhao ◽  
...  
Keyword(s):  
Birth Weight ◽  
Missense Mutation ◽  
Glutamate Dehydrogenase ◽  
De Novo ◽  
Novel Mutation ◽  
Genetic Diagnosis ◽  
Congenital Hyperinsulinism ◽  
Normal Birth Weight ◽  
Normal Birth

AbstractHyperinsulinism-hyperammonemia (HI/HA) syndrome, often characterized by recurrent symptomatic hypoglycemia and persistent hyperammonemia, is the second most frequent cause of the congenital hyperinsulinism (CHI). Here, we reported a patient with normal birth weight, repeated seizures, untreatable hypoglycemia, and persistent, mild hyperammonemia. The genetic diagnosis revealed that the patient carried a heterozygous, de novo missense mutation (N410I, c.1401A>T) in the glutamate dehydrogenase 1 gene (

A Novel Mutation inABCC8Gene in a Newborn with Congenital Hyperinsulinism –A Case Report

2013 ◽  
Vol 32 (6) ◽  
pp. 412-417 ◽  
Author(s):  
Nuran Uzunalic Üstün ◽  
Dilek Dilli ◽  
Ahmet Afsin Kundak ◽  
Nurullah Okumus ◽  
Derya Erdoğan ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Congenital Hyperinsulinism

Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene

2014 ◽  
Vol 0 (0) ◽  
Author(s):  
Deniz Anuk Ince ◽  
Nursel Muratoglu Sahin ◽  
Ayse Ecevit ◽  
Abdullah Kurt ◽  
Sibel Tulgar Kinik ◽  
...  
Keyword(s):  
Homozygous Mutation ◽  
Congenital Hyperinsulinism ◽  
Abcc8 Gene

scholarly journals Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-l-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene

2009 ◽  
Vol 160 (6) ◽  
pp. 1019-1023 ◽  
Author(s):  
Stefania Di Candia ◽  
Alessandra Gessi ◽  
Gino Pepe ◽  
Paola Sogno Valin ◽  
Eleonora Mangano ◽  
...  
Keyword(s):  
Positron Emission Tomography ◽  
Organic Acids ◽  
Novel Mutation ◽  
Ct Scanning ◽  
Emission Tomography ◽  
Acid Oxidation ◽  
Hyperinsulinemic Hypoglycemia ◽  
Congenital Hyperinsulinism ◽  
Positron Emission ◽  
Diffuse Form

ObjectiveCongenital hyperinsulinism is the most common cause of persistent hypoglycemia in infancy (HI), leading to severe neurologic disabilities if not promptly treated. The recent application of positron emission tomography (PET)/computed tomography (CT) scanning with 18-fluoro-l-3,4 dihydroxyphenylalanine improved the ability to distinguish the two histopathologic forms of HI (focal and diffuse), whose differentiation heavily influences the therapeutic management of the patient.Case reportWe describe the case of a patient presenting with severe hypoglycemia from infancy. High concentration of insulin suggested the diagnosis of congenital hyperinsulinism. No metabolic disorders related to amino acid, organic acids or fatty acid oxidation were detected. Medical treatment was able to obtain a satisfactory metabolic response.ResultsThe patient underwent PET/CT scanning, revealing a diffuse form of the disease. The absence of mutations in KCNJ11 and ABCC8 genes (responsible for 50% of HI cases), and whole genome single nucleotide polymorphisms analysis by microarray suggested the HADH gene as a likely candidate. Sequence analysis revealed a novel homozygous nonsense mutation (R236X) in HADH gene.ConclusionsThis case indicates that mutations of the HADH gene should be sought in hyperinsulinemic patients in whom diffuse form of HI and autosomal recessive inheritance can be presumed when KCNJ11 and ABCC8 genes mutational screening is negative, even in the absence of altered organic acids and acylcarnitines concentration.

Sign in / Sign up

Export Citation Format

Share Document