Novel mutation of SLC37A4 in a glycogen storage disease type Ib patient with neutropenia, horseshoe kidney, and arteriovenous malformation: a case report.

Glycogen storage disease type Ib (GSDIb) is an autosomal recessive disorder caused by mutations of SLC37A4 gene, which encodes glucose 6-phosphate translocase (G6PT). Malfunction of G6PT leads to excessive fat and glycogen in liver, kidney, and intestinal mucosa. The clinical manifestations of GSD1b include hepatomegaly, renomegaly, neutropenia, hypoglycemia, and lactic acidosis. Furthermore, the disorder may result in severe complications in long-term including inflammatory bowel disease (IBD), hepatocellular adenomas (HCA), short stature, and autoimmune disorders, which stem from neutropenia and neutrophil dysfunction. Here, we represent a novel mutation of SLC37A4 in a 5-month girl who has a history of hospitalizations several times due to recurrent infection and her early presentations were failure to thrive and tachypnea. Further investigations revealed mild atrial septal defect, mild arteriovenous malformation from left lung, esophageal reflux, Horseshoe kidney, and urinary reflux in this patient. Moreover, the lab tests showed neutropenia, immunoglobulin (Ig) G and IgA deficiency, as well as thrombocytosis. Whole exome sequencing revealed c.1245G > A P.W415 homozygous mutation in SLC37A4 gene and c.580G > A p.V1941 heterozygous mutation in PIK3CD gene. This study shows that manifestations of GSD1b may not be limited to what was previously known and it should be considered in a wider range of patients.

The Prognostication Potential of BRCA Genes Expression in Gliomas: A Genetic Survival Analysis Study.

BACKGROUND: Gliomas are the most common type of central nervous system tumor in adults, and they have an extremely poor prognosis. Gliomas are classified into 4 grades, with low-grade gliomas (LGGs) constituting grades I and II and glioblastoma multiforme (GBM) constituting grade IV. Breast cancer susceptibility genes BRCA1 and BRCA2 play a role in DNA repair and are required for genome stability. METHODS: We analyzed the LGG and GBM cohorts from The Cancer Genome Atlas. We used Kaplan-Meier and log-rank analysis to determine the relationship between BRCA1 and BRCA2 expression and survival. RESULTS: Correlation of BRCA1 and BRCA2 expression with survival in patients with LGG was significant (P = 0.00 and P = 0.00). The higher the levels of expression were, the lower survival rates were in both LGG and GBM cohorts, but the correlation was not significant in patients with GBM (P < 0.01). CONCLUSIONS: Our findings suggest that BRCA1 and BRCA2 can be regarded as poor prognostic factors in patients with glioma, with greater significance in patients with LGG. In the future, more in-depth experiments will enable us to elucidate the mechanism of gliomagenesis and identify potential gene therapy targets.