A genetic cause of the protein-losing enteropathy (PLE) disease Diarrhea 10 (DIAR10) are mutations in the recently described (plasmalemma vesicle protein). An infant with fatal PLE had a novel homozygous frameshift mutation (c.339dupT; p.Ala114Cysfs*9) leading to a premature stop codon in exon 1 of the (NM_031310) gene detected by Whole Exome Sequencing (WES). The frameshift mutation (; c.339dupT; p.Ala114Cysfs*9) we have described in our patient has not been previously reported. This is the fifth case reported with a mutation in associated with PLE and DIAR10.
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| http://dx.doi.org/10.1080/15513815.2019.1627624 | DOI Listing |
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