A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis

Chappell, L. Terry; Gorman, Shaun; Campbell, Fiona; Ellard, Sian; Rice, Gillian I.; Dobbie, Angus; Crow, Yanick J.

doi:10.1002/ajmg.a.32304

Cited by 39 publications

(26 citation statements)

References 31 publications

(43 reference statements)

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“…However, the two syndromes differ in that neonatal diabetes is present in Mitchell-Riley, while tracheoesophageal fistula is found in the Martinez-Frias syndrome (4). Over the years, many cases were reported with the same phenotypes, but additional features have also been discovered such as haemochromatosis, thyroid dysfunction, auditory canal defects, hypospadias in males and anteriorly-placed anus in females (5,6). Infants with neonatal diabetes have also been investigated for gene defects for diabetes, such as PLAGL-1 (ZAC), glucokinase and PDX-1 (IPF-1) genes, with negative results (6).…”

Section: Introductionmentioning

confidence: 99%

“…Over the years, many cases were reported with the same phenotypes, but additional features have also been discovered such as haemochromatosis, thyroid dysfunction, auditory canal defects, hypospadias in males and anteriorly-placed anus in females (5,6). Infants with neonatal diabetes have also been investigated for gene defects for diabetes, such as PLAGL-1 (ZAC), glucokinase and PDX-1 (IPF-1) genes, with negative results (6). In 2010, Smith et al (7) detected a novel genetic mutation in the RFX6 gene (regulatory factor X on chromosome 6) in 6 babies, all of whom had neonatal diabetes.…”

Section: Introductionmentioning

confidence: 99%

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A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Khan

Dandan²,

Hassani³

et al. 2016

Jcrpe

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Mitchell-Riley syndrome is a genetic disorder characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia and/or malrotation, biliary atresia, and gallbladder aplasia or hypoplasia. It was considered a variant of the Martinez-Frias syndrome with similar phenotypic characteristics, except for neonatal diabetes and tracheoesophageal fistula. However, the genetic mutation in (regulatory factor X on chromosome 6) RFX6 was only detected in babies who had diabetes, making it different from the previously known mutations for the disease. This is the first reported case of a classical Mitchell-Riley syndrome in the Arab peninsula along with additional features and novel mutations in the RFX6 gene.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Khan

Dandan²,

Hassani³

et al. 2016

Jcrpe

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“…In MRS/MFS, the pancreas can be structurally normal with pancreatic dysfunction manifested by neonatal diabetes, or have anomalous structure with either hypoplastic or annular pancreas. 5 Our patient's pancreatic insufficiency manifested with loose, watery and pale colored stools, despite a structurally normal pancreas on abdominal ultrasound and as seen during duodenal atresia repair. The abnormal stooling pattern was most evident once the patient was tolerating full enteral intake.…”

Section: Casementioning

confidence: 93%

“…Newer case reports referred to patients with features of MFS, neonatal diabetes and presence of RFX6 mutation, but lacking TE fistula as having Mitchel-Riley syndrome (MRS). 4,5 Another emerging key feature is the presentation of neonatal hemochromatosis, as described by Martinovici et al 6 …”

Section: Introductionmentioning

confidence: 97%

Clinical and genetic complexity of Mitchell–Riley/Martinez–Frias syndrome

et al. 2014

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Mitchell-Riley syndrome/Martinez-Frias syndrome (MRS/MFS) is a rare, autosomal recessive disorder with multisystem involvement and poor prognosis. Most reported cases have been associated with homozygous or compound heterozygous mutations in the RFX6 gene, a transcriptional regulatory factor for pancreatic morphogenesis. Given the limited number of reported cases, the syndrome may be under-recognized. When the particular phenotype of MFS includes a mutation on the RFX6 gene and neonatal diabetes, it has been called Mitchell-Riley syndrome. Because of this, we propose that MFS/MRS is a symptom continuum or an RFX6 malformation complex. We report an infant with all of the key clinical features of MRS/MFS without a definable mutation in RFX6 gene, supporting the consideration of these features as a symptom complex, and raising the question of genetic heterogeneity.

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“…Pancreatic immunohistochemistry revealed few scattered chromogranin-A-positive cell clusters but complete absence of insulin, glucagon and somatostatin. Chapell et al [19] noted that in this syndrome, neonatal diabetes affecting both the GB and the SI can occur without a demonstrable structural pancreatic abnormality, indicating that a deficit in pancreatic function is involved. This particular syndromic linkage between the GB and SI again demonstrates an intimate relationship between these two organs.…”

Section: The Hormonal Factormentioning

confidence: 99%

Inner Ear Disorders: Exploring Possible Links between the Endolymphatic Sac, Gall Bladder and Small Intestine

Low¹

2017

IJCAM

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Introduction: In Traditional Chinese Medicine (TCM), the gall-bladder (GB) and small intestine (SI) systems are closely associated with the ear. Acupuncture involving these meridians has been used with success in Meniere's disease where the endolymphatic sac of the inner ear plays a key role. This paper aimed to find out if the endolymphatic sac of the ear shared certain anatomical, physiological and pathological similarities with those of the GB and SI.Methods: A Medline search of the English literature with each of the words "endolymphatic sac", "gall bladder" and "small intestine", was carried out. Relevant English literature detailing the anatomy and physiology of the 3 structures were also reviewed. Results:The GB, SI & ES are found to share common anatomical features facilitating the absorption of fluid and electrolytes. In addition, physiological and pathological processes involving allergy, immune-defense, hormonal action and active transport of solutes are involved in all the 3 structures. Conclusion:If the GB, SI and ES are indeed linked functionally and/or pathologically by one or more of the common themes relating to immunity, the endocrine system as well as fluid and electrolyte homeostasis, plausible medical explanations could possibly be offered for the pathogenesis and treatment of ear disorders as perceived by TCM.

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A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis

Cited by 39 publications

References 31 publications

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Clinical and genetic complexity of Mitchell–Riley/Martinez–Frias syndrome

Inner Ear Disorders: Exploring Possible Links between the Endolymphatic Sac, Gall Bladder and Small Intestine

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