Microvillus inclusion disease, a diagnosis to consider when abnormal stools and neurological impairments run together due to a rare syntaxin 3 gene mutation

2019 ◽  
Vol 12 (3) ◽  
pp. 313-319 ◽  
Author(s):  
Jacqueline Julia ◽  
Valerie Shui ◽  
Naveen Mittal ◽  
Josefine Heim-Hall ◽  
Cynthia L. Blanco
Keyword(s):  
Gene Mutation ◽  
Syntaxin 3

scholarly journals Microvillus Inclusion Disease Variant in an Infant with Intractable Diarrhea

2017 ◽  
Vol 11 (3) ◽  
pp. 655-659 ◽  
Author(s):  
Badr M. Rasheed Alsaleem ◽  
Amna Basheer M. Ahmed ◽  
Musa Ahmad Fageeh
Keyword(s):  
Gene Mutation ◽  
Microscopy Study ◽  
Electron Microscopy Study ◽  
Secretory Diarrhea ◽  
Intestinal Biopsy ◽  
Clinical Environment ◽  
Whole Exome ◽  
Small Intestinal Biopsy ◽  
Disease Variant ◽  
Syntaxin 3

Microvillus inclusion disease (MVID) is a rare autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea. We report a case of MVID variant with a homozygous gene mutation in syntaxin 3 (STX3). The patient is a male Saudi infant who presented shortly after birth with severe vomiting, metabolic acidosis, and mild diarrhea. Electron microscopy study for small intestinal biopsy was consistent with MVID. MYO5B gene mutation was excluded; subsequently, whole exome sequencing (WES) was performed, which revealed homozygous gene mutation in STX3. Using WES in clinical environment can be a useful tool for diagnosing difficult and rare inherited congenital enteropathies.

Abstract #703: An Adult Patient with Severe Hypocalciuric Hypercalcemia with Negative Casr Gene Mutation

2015 ◽  
Vol 21 ◽  
pp. 124-125
Author(s):  
Grace Kim ◽  
Michael Marchese ◽  
Hassan Shawa ◽  
Matthew Leinung ◽  
Sara Clark
Keyword(s):  
Adult Patient ◽  
Gene Mutation ◽  
Casr Gene

SCREENING OF FSH RECEPTOR GENE MUTATION (C566T) IN AZOOSPERMIC MEN IN JAPAN

2006 ◽  
Vol 52 (1) ◽  
pp. 15-19 ◽  
Author(s):  
T. Ishikawa ◽  
M. Fujisawa ◽  
J. Tapanainen
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Fsh Receptor ◽  
Fsh Receptor Gene

A frequent gene mutation associated with autosomal dominant Parkinson's disease

The Lancet ◽  
2005 ◽  
Vol 365 (9457) ◽  
pp. 412-415 ◽  
Author(s):  
A DIFONZO ◽  
C ROHE ◽  
J FERREIRA ◽  
H CHIEN ◽  
L VACCA ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Autosomal Dominant
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