Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome

Azzabi, O.; Jilani, Houweyda; Rejeb, Imen; Siala, N.; Elaribi, Yasmina; Hizem, Syrine; Selmi, I.; Halioui, S.; Lascols, Olivier; Jemaa, Lamia Ben; Maherzi, A.

doi:10.1515/jpem-2015-0232

Cited by 5 publications

(2 citation statements)

References 22 publications

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“…In our case, despite increase in parenchymal echogenicity, renal functions and urinary calcium excretion were normal. Cystic enlargement of the ovaries was also present in our case as a component of the syndrome, as reported previously [Unal et al, 2009;Drohobyczer et al, 2010;Azzabi et al, 2016;Kirel et al, 2017]. The exact mechanism of cystic ovarian enlargement is not known.…”

Section: Discussionsupporting

confidence: 86%

Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome

Çakır

Саидов²,

Turan

et al. 2020

Mol Syndromol

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Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS) are rare diseases caused by biallelic variants within the insulin receptor gene (INSR). Here, we report 2 cases: one with DS and the other with RMS. The case with DS presented with intrauterine growth retardation, nipple hypertrophy, clitoromegaly, distended abdomen, hypertrichosis, and dysmorphic features. The second case showed severe acanthosis nigricans, hyperkeratosis, and hypertrichosis. In both cases, abnormal glucose homeostasis due to severe insulin resistance was observed. The diagnosis of DS and RMS was established based on clinical characteristics, abnormal glucose homeostasis, high serum insulin levels, and determination of pathogenic variants in the INSR gene. The first case with DS has 2 novel homozygous variants, NM_000208.3, c.3122delA (p.N1041Mfs*16) and c.3419C>G (p.A1140G), and the second case with RMS has a previously reported homozygous variant NM_000208.3, c.3529+5G>A (IVS19+5G>A) in the INSR gene.

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Section: Discussionsupporting

confidence: 86%

Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome

Çakır

Саидов²,

Turan

et al. 2020

Mol Syndromol

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“…Clinical data on the pharmacological effects of rhIGF 1 (beneficial or deleterious) on hypertrophic cardiomyopathy development and progression in DS patients are limited. Additionally, abdominal distension was present in almost all reported DS cases, and the infants not treated with rhIGF 1 died [ 18 , 19 ]. Possible mechanisms involve IGF 1 and insulin signal transduction inhibiting apoptosis and stimulating cellular proliferation and carcinogenesis [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

Duodenogastric Intussusception in a 14-Week-Old Infant with Donohue Syndrome: Case Study

Nicolescu,

Cremillieux,

Stephan

2023

Case Reports in Pediatrics

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Donohue syndrome (DS) is a rare recessively inherited disorder characterized by severe insulin resistance caused by genetic defects affecting the insulin receptor. The classical clinical characteristics include severe intrauterine growth restriction, craniofacial dysmorphic features, body and skin features, and soft tissue overgrowth. Postnatal growth retardation, cardiac, gastrointestinal, and renal complications, and infection susceptibility develop within the first few months of life, leading to a short life expectancy (<2 years). The classical metabolic abnormalities vary from fasting hypoglycemia to postprandial hyperglycemia with severe hyperinsulinemia. We present the case of a 14-week-old infant with DS who developed cardiac, renal, hepatic, pancreatic, and gastrointestinal features, all of them previously reported in infants with DS. The gastrointestinal features started during the first week of life and included abdominal distension, feeding difficulties, intermittent vomiting, and two episodes of intestinal obstruction. The diagnosis of duodenogastric intussusception was made, and this previously unreported complication tragically resulted in mortality. We discuss how basic mechanisms of cross-talk between insulin and insulin-growth factor 1 receptors could be linked to hyperinsulinemia and its associated comorbidities.

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Donohue Syndrome

Mukherjee¹,

Wanjari²,

Vellingiri³

et al. 2023

Genetic Syndromes

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Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome

Cited by 5 publications

References 22 publications

Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome

Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome

Duodenogastric Intussusception in a 14-Week-Old Infant with Donohue Syndrome: Case Study

Donohue Syndrome

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