Microvillus Inclusion Disease: A Rare Mutation of STX3 in Exon 9 Causing Fatal Congenital Diarrheal Disease

2020 ◽  
Author(s):  
Femitha Pournami ◽  
Alok Kumar MK ◽  
Anila V. Panackal ◽  
Anand Nandakumar ◽  
Jyothi Prabhakar ◽  
...  
Keyword(s):  
Intensive Care ◽  
Diarrheal Disease ◽  
Phenotype Correlation ◽  
Rare Mutation ◽  
Correlation Studies ◽  
Gene Coding ◽  
New Finding ◽  
Exon 9 ◽  
Myosin Vb ◽  
Syntaxin 3

AbstractInherited diarrheal disorders cause serious morbidity resulting in dependence on intensive care and parenteral nutrition. Microvillus inclusion disease (MVID) has been classically described and results from mutations in the gene coding myosin Vb, which is responsible for enterocyte polarization. Newer reports of mutations resulting in truncated syntaxin 3 (STX3) and Munc18-2 (STXBP2) proteins have been elucidated as causative. To date, five cases of STX3 abnormalities resulting in MVID have been described. We report an infant who presented with congenital diarrhea and was determined to have a rare mutation of STX3. This new finding would be beneficial in future functional genotype–phenotype correlation studies.

scholarly journals Vici syndrome in an Egyptian infant: case report and differential diagnosis of inherited hypopigmented disorders

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Marwa Abd Elmaksoud ◽  
Aya Attya Abeesh ◽  
Catarina Pereira ◽  
Marwa El-Saeed El-Deeb
Keyword(s):  
Differential Diagnosis ◽  
Corpus Callosum ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Phenotype Correlation ◽  
Multisystem Disease ◽  
Case Presentation ◽  
Correlation Studies ◽  
Clinical Description ◽  
Infant Case

Abstract Background Vici syndrome is a severe inherited multisystem disease caused by mutations in the EPG5 gene. The diagnosis depends on the constellation of cardinal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency followed by confirmation by genetic testing. We report an Egyptian infant with Vici syndrome carrying a homozygous splice site variant (c.1252+1G>T; NM_020964.2) in the EPG5 gene, detailed clinical description, outcome, and differential diagnosis of inherited hypopigmentation disorders associated with neurological manifestations. Case presentation The infant initially presented with oculocutaneous hypopigmentation, agenesis of the corpus callosum, and immunodeficiency. A few months later, a diagnosis of dilated cardiomyopathy was made. Family history revealed 2 deceased siblings phenotypically matching our index infant. He died at the age of 15 months with acute respiratory failure. Conclusion The accurate diagnosis of such rare diseases with genetic confirmation is vital for proper clinical decision-making, genetic counseling of the affected families, and future genotype-phenotype correlation studies.

scholarly journals Predictors of Meningitis in Under-Fifteen Children Attending an Intensive Care Unit of an Urban Large Diarrheal Disease Hospital in Bangladesh

2014 ◽  
Vol 05 (02) ◽  
pp. 169-176 ◽  
Author(s):  
Farzana Afroze ◽  
Tahmeed Ahmed ◽  
Shafiqul Alam Sarker ◽  
Abu S. G. Faruque ◽  
Hasan Ashraf ◽  
...  
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Diarrheal Disease ◽  
Disease Hospital

scholarly journals Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
C. Simoncini ◽  
V. Montano ◽  
G. Alì ◽  
R. Costa ◽  
G. Siciliano ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Gene Mutations ◽  
Mitochondrial Diseases ◽  
Leigh Syndrome ◽  
Phenotype Correlation ◽  
Mitochondrial Trna ◽  
Gene Coding ◽  
Clinical Presentations ◽  
Wide Range ◽  
Proximal Myopathy

Mitochondrial (mt) tRNA (MTT) gene mutations are an important cause of mitochondrial diseases and are associated with a wide range of clinical presentations. Most mutations fall into three mitochondrial tRNAs (tRNAIle, tRNALeu (UUR), and tRNALys) and are responsible for half of the mitochondrial diseasees associated with tRNA mutation, with MERRF, MELAS, mitochondrial myopathy, and Leigh syndrome being the most frequent phenotypes. More than 100 tRNA pathogenetic mutations are described, showing little correlation between the observed clinical phenotype and a specific mitochondrial tRNA mutation. Furthermore different mutation can manifest with similar clinical phenotypes, making the genotype-phenotype correlation difficult. Here we report the case of an Italian 53-year-old woman presenting with a proximal myopathy and the m.5835G>A mutation in MT-TY gene coding for the mitochondrial tRNA Tyrosine gene.

Blau syndrome with a rare mutation in exon 9 of NOD2 gene

Autoimmunity ◽  
2019 ◽  
Vol 52 (7-8) ◽  
pp. 256-263
Author(s):  
Jelena Velickovic ◽  
Fatma Silan ◽  
Firdevs Dincsoy Bir ◽  
Coskun Silan ◽  
Burcu Albuz ◽  
...  
Keyword(s):  
Blau Syndrome ◽  
Rare Mutation ◽  
Exon 9

Rare disease or rare diagnosed diseases: Blau syndrome with a rare mutation in exon 9 of NOD2 gene from Canakkale

2018 ◽  
Vol 280 ◽  
pp. S65
Author(s):  
Fatma Silan ◽  
Jelena Djurovic ◽  
Firdevs Dincsoy Bir ◽  
Coskun Silan ◽  
Özturk Özdemir
Keyword(s):  
Rare Disease ◽  
Blau Syndrome ◽  
Rare Mutation ◽  
Exon 9

scholarly journals Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

2017 ◽  
Vol 55 (3) ◽  
pp. 205-213 ◽  
Author(s):  
Solveig Heide ◽  
Sandra Chantot-Bastaraud ◽  
Boris Keren ◽  
Madeleine D Harbison ◽  
Salah Azzi ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosomal Rearrangements ◽  
Paternal Allele ◽  
Parental Origin ◽  
Imprinted Genes ◽  
Phenotype Correlation ◽  
Growth Disturbance ◽  
Correlation Studies ◽  
Functional Consequences

BackgroundThe 11p15 region contains two clusters of imprinted genes. Opposite genetic and epigenetic anomalies of this region result in two distinct growth disturbance syndromes: Beckwith-Wiedemann (BWS) and Silver-Russell syndromes (SRS). Cytogenetic rearrangements within this region represent less than 3% of SRS and BWS cases. Among these, 11p15 duplications were infrequently reported and interpretation of their pathogenic effects is complex.ObjectivesTo report cytogenetic and methylation analyses in a cohort of patients with SRS/BWS carrying 11p15 duplications and establish genotype/phenotype correlations.MethodsFrom a cohort of patients with SRS/BWS with an abnormal methylation profile (using ASMM-RTQ-PCR), we used SNP-arrays to identify and map the 11p15 duplications. We report 19 new patients with SRS (n=9) and BWS (n=10) carrying de novo or familial 11p15 duplications, which completely or partially span either both telomeric and centromeric domains or only one domain.ResultsLarge duplications involving one complete domain or both domains are associated with either SRS or BWS, depending on the parental origin of the duplication. Genotype-phenotype correlation studies of partial duplications within the telomeric domain demonstrate the prominent role of IGF2, rather than H19, in the control of growth. Furthermore, it highlights the role of CDKN1C within the centromeric domain and suggests that the expected overexpression of KCNQ1OT1 from the paternal allele (in partial paternal duplications, excluding CDKN1C) does not affect the expression of CDKN1C.ConclusionsThe phenotype associated with 11p15 duplications depends on the size, genetic content, parental inheritance and imprinting status. Identification of these rare duplications is crucial for genetic counselling.

Vibrio mimicus Infection Associated with Crayfish Consumption, Spokane, Washington, 2010

2012 ◽  
Vol 75 (4) ◽  
pp. 762-764 ◽  
Author(s):  
MEAGAN K. KAY ◽  
EMILY J. CARTWRIGHT ◽  
DOROTHY MacEACHERN ◽  
JOEL McCULLOUGH ◽  
EZRA BARZILAY ◽  
...  
Keyword(s):  
Intensive Care ◽  
Cholera Toxin ◽  
Diarrheal Disease ◽  
Stool Culture ◽  
Washington State ◽  
Gastrointestinal Illness ◽  
Severe Illness ◽  
Cross Contamination ◽  
Vibrio Mimicus

We report a cluster of severe diarrheal disease caused by Vibrio mimicus infection among four persons who had consumed leftover crayfish the day after a private crayfish boil. Gastrointestinal illness caused by Vibrio mimicus has not been reported previously in Washington State. Three cases were laboratory confirmed by stool culture; using PCR, isolates were found to have ctx genes that encode cholera toxin (CT). Two of the cases were hospitalized under intensive care with a cholera-like illness. The illnesses were most likely caused by cross-contamination of cooked crayfish with uncooked crayfish; however, V. mimicus was not isolated nor were CT genes detected by PCR in leftover samples of frozen crayfish. Clinicians should be aware that V. mimicus can produce CT and that V. mimicus infection can cause severe illness.

scholarly journals Phenotypic and Genotypic Characterization of Avian Escherichia coli O86:K61 Isolates Possessing a Gamma-Like Intimin

2002 ◽  
Vol 68 (10) ◽  
pp. 4932-4942 ◽  
Author(s):  
R. M. La Ragione ◽  
I. M. McLaren ◽  
G. Foster ◽  
W. A. Cooley ◽  
M. J. Woodward
Keyword(s):  
Escherichia Coli ◽  
Diarrheal Disease ◽  
Wild Birds ◽  
Gene Encoding ◽  
Infantile Diarrhea ◽  
E Coli ◽  
Gene Coding ◽  
Transmission Electron ◽  
Specific Pathogen

ABSTRACT Escherichia coli O86:K61 has long been associated with outbreaks of infantile diarrhea in humans and with diarrheal disease in many animal species. Studies in the late 1990s identified E. coli O86:K61 as the cause of mortality in a variety of wild birds, and in this study, 34 E. coli O86:K61 isolates were examined. All of the isolates were nonmotile, but most elaborated at least two morphologically distinct surface appendages that were confirmed to be type 1 and curli fimbriae. Thirty-three isolates were positive for the eaeA gene encoding a gamma type of intimin. No phenotypic or genotypic evidence was obtained for elaboration of Shiga-like toxins, but most isolates possessed the gene coding for the cytolethal distending toxin. Five isolates were selected for adherence assays performed with tissue explants and HEp-2 cells, and four of these strains produced attaching and effacing lesions on HEp-2 cells and invaded the cells, as determined by transmission electron microscopy. Two of the five isolates were inoculated orally into 1-day-old specific-pathogen-free chicks, and both of these isolates colonized, invaded, and persisted well in this model. Neither isolate produced attaching and effacing lesions in chicks, although some pathology was evident in the alimentary tract. No deaths were recorded in inoculated chicks. These findings are discussed in light of the possibility that wild birds are potential zoonotic reservoirs of attaching and effacing E. coli.

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