Infancy onset diabetes mellitus in a patient with a novel homozygous LRBA mutation
<h3>Background</h3><p dir="ltr"><a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/lipopolysaccharide" target="_blank">LRBA</a> deficiency is associated with <a href="https://www.sciencedirect....
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , |
| منشور في: |
2022
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| الموضوعات: | |
| الوسوم: |
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| الملخص: | <h3>Background</h3><p dir="ltr"><a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/lipopolysaccharide" target="_blank">LRBA</a> deficiency is associated with <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/common-variable-immunodeficiency" target="_blank">common variable immune deficiency</a> which manifests as <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/hypogammaglobulinemia" target="_blank">hypogammaglobulinemia</a>, autoimmunity, <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/humoral-immune-deficiency" target="_blank">antibodies deficiency</a>, <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/lymphocyte-proliferation" target="_blank">lymphoproliferation</a> and a high susceptibility to <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/inflammatory-bowel-disease" target="_blank">inflammatory bowel disease</a> in early childhood. Diabetes mellitus, <a href="https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/growth-retardation" target="_blank">growth retardation</a> and short stature have also been reported in some patients with <a href="https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/lipopolysaccharide" target="_blank">LRBA</a> deficiency</p><h3>Methodology</h3><p dir="ltr">The <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/proband" target="_blank">proband</a> with infancy-onset diabetes mellitus was recruited with her family. <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/glutamate-decarboxylase" target="_blank">Glutamic acid decarboxylase</a>, insulin, <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/protein-tyrosine-phosphatase" target="_blank">protein tyrosine phosphatase</a> and <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/zinc-transporter" target="_blank">zinc transporter</a> autoantibodies were measured. <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/whole-genome-sequencing" target="_blank">Whole genome sequencing</a> for the proband was undertaken to identify causative gene and candidate mutations were confirmed using <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/sanger-sequencing" target="_blank">Sanger sequencing</a>. A diagram of <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/lipopolysaccharide" target="_blank">LRBA</a> with predicted domains and reported mutations of LRBA in patients diagnosed with diabetes mellitus was used to investigate clinical phenotype relation to genotype in this type of patients.</p><h3>Results</h3><p dir="ltr">Here we report a novel homozygous mutation <i>in LRBA</i> (W1330*, c.3999 G > A) in a child diagnosed with immunodeficiency and infancy-onset diabetes mellitus at the age of 7 months. The same mutation was also found in an older sibling but that sibling does not have diabetes mellitus. The heterogeneity of diabetes presentation in LRBA-deficient patients suggests other <a href="https://www.sciencedirect.com/topics/immunology-and-microbiology/heredity" target="_blank">genetic factors</a> or protein-protein interactions in the LRBA pathway may play a role in the pathogenesis of the disease</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Clinical and Translational Endocrinology: Case Reports<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1016/j.jecr.2022.100108" target="_blank">https://dx.doi.org/10.1016/j.jecr.2022.100108</a></p> |
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