Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene

Ardon, Orly; Procter, Melinda; Tvrdik, Tatiana; Longo, Nicholas V.; Mao, Rong

doi:10.1016/j.ymgmr.2013.12.006

Cited by 55 publications

(59 citation statements)

References 92 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The INSR gene maps to the short arm of chromosome 19 and is composed of 22 exons (4,5). Our patient had a mutation that was previously reported by Jospe et al (4).…”

Section: Discussionsupporting

confidence: 65%

“…Mutations that markedly impaired insulin binding resulted in the most severe phenotypes, while the presence of at least one mutation leaving residual insulin binding activity is associated with longer survival. Definitive genotype-phenotype correlation for INSR defects is difficult to establish, primarily due to the rarity of these syndromes and the lack of functional studies to determine the effect of mutations on insulin binding or signaling (5). A compilation of all the reported mutations affecting the INSR gene was done by Ardon et al, which might be the first step towards the development of a mutation database for the INSR gene (5).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Donohue syndrome: a new case with a new complication

Odeh

Alassaf

Al-Qudah

2015

Journal of Pediatric Endocrinology and Metabolism

View full text Add to dashboard Cite

Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million live births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor gene. DS is characterized by pre- and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting, acanthosis nigricans, hypertrichosis, and dysmorphic features. Glucose homeostasis is affected with hyperinsulinemia, fasting hypoglycemia, and postprandial hyperglycemia. We report a Jordanian patient with genetically proven DS who had the classical physical features, progressive hypertrophic cardiomyopathy, cholestasis, and hyperglycemia, followed by hypoglycemia. In addition, the patient developed polyuria and uremia despite normal creatinine levels, hypernatremia, and hypertension. To our knowledge, these metabolic derangements were not previously reported in patients with DS.

show abstract

“…The INSR gene maps to the short arm of chromosome 19 and is composed of 22 exons (4,5). Our patient had a mutation that was previously reported by Jospe et al (4).…”

Section: Discussionsupporting

confidence: 65%

Section: Discussionmentioning

confidence: 99%

Donohue syndrome: a new case with a new complication

Odeh

Alassaf

Al-Qudah

2015

Journal of Pediatric Endocrinology and Metabolism

View full text Add to dashboard Cite

show abstract

“…The pathophysiology of RMS is explained by abnormality of the INSR gene at the gene map locus 19p13.2. (OMIM: 609968, 246200, 262190) resulting in severe biallelic loss-of-function of the insulin receptor and impaired insulin binding [3, 5]. …”

Section: Discussionmentioning

confidence: 99%

Rabson Mendenhall Syndrome caused by a novel missense mutation

Sinnarajah¹,

Dayasiri²,

Dissanayake³

et al. 2016

Int J Pediatr Endocrinol

View full text Add to dashboard Cite

BackgroundRabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely challenging and will need multi-disciplinary approach.Case presentationAn 11 year old boy presented with polyuria and polydipsia. He was noted to have coarse facies, severe acanthosis nigricans, hypertrichosis, retarded growth and developmental delay. Investigations revealed severe hyperglycemia which was poorly responsive to high doses of insulin. A diagnosis of Rabson Mendenhall syndrome was suspected based on his physical characteristics in the presence of insulin resistance. Genetic studies revealed a homozygous missense mutation in the Insulin receptor gene confirming the diagnosis of Rabson Mendenhall syndrome. This is a novel mutation which has not been reported previously.ConclusionRabson Mendenhall syndrome should be suspected in a patient with characteristic physical features, severe hyperglycemia and insulin resistance. The genetic studies will not only confirm the diagnosis but also will help in counselling. Wider collaboration is needed to identify definitive treatment options for managing this rare condition.

show abstract

“…Consequently, the analytical detection of the two bases is pivotal for bioscience and clinical analysis [23][24][25]. And in most circumstances, this kind of research proceed in vitro such as the gene sequencing [26]. Whereas the low electron transfer and irreversible absorption on bare electrode hamper the sensitive detection of guanine and adenine.…”

Section: Introductionmentioning

confidence: 99%

Silver nanoparticles-β-cyclodextrin-graphene nanocomposites based biosensor for guanine and adenine sensing

Hui

Hou

et al. 2014

Ionics

View full text Add to dashboard Cite

Graphene deposited with silver nanoparticles (AgNPs-β-CD-Gr) has been synthesized by thermal reduction of graphene oxide and silver nitrate via β-cyclodextrin (β-CD). It offers a simple, green, and efficient procedure to yield nanocomposites with silver nanoparticles anchored on graphene support, uniformly and stably. Guanine and adenine were simultaneously detected on the modified electrode (AgNPs-β-CD-Gr/GCE) by differential pulse voltammograms. The AgNPs-β-CD-Gr/GCE obviously improved the voltammetric response of guanine and adenine demonstrating that the synergistic effect of silver nanoparticles and graphene can significantly enhance the detecting sensitivity of guanine and adenine. The electrochemical biosensor based on AgNPs-β-CD-Gr exhibits wide linear ranges of 0.3-200 and 0.5-250 μM with detection limits of 0.09 and 0.15 μM for guanine and adenine, respectively. The proposed method was also applied for the measurement of trace-level of these purine bases in herring sperm DNA (dsDNA). The results suggest that the nanocomposite has a potential application for electrocatalytic biosensing.

show abstract

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene

Cited by 55 publications

References 92 publications

Donohue syndrome: a new case with a new complication

Donohue syndrome: a new case with a new complication

Rabson Mendenhall Syndrome caused by a novel missense mutation

Silver nanoparticles-β-cyclodextrin-graphene nanocomposites based biosensor for guanine and adenine sensing

Contact Info

Product

Resources

About