Kenny-Caffey syndrome (KCS) is a rare autosomal recessive (AR)/dominant disease characterized by hypoparathyroidism, skeletal dysplasia, dwarfism, and dysmorphism.
FAM111A
or
TBCE
gene mutations are responsible for this syndrome. Osteocraniostenosis (OCS) is a lethal syndrome with similar features to KCS, and it can be a severe form of KCS type 2 which results from the
FAM111A
gene mutation. The
FAM111A
mutation is generally characterized by the autosomal dominant transition. We present a male case having compound heterozygous variants (c.976T>A and c.1714_1716del) in the
FAM111A
gene with an AR inheritance pattern. Hypocalcemia developed on the second day of life. The patient and his older sister had a dysmorphic face, skeletal dysplasia, and they were diagnosed with hypoparathyroidism. Both siblings died due to septicemia. He is the first reported patient with the
FAM111A
mutation in Turkey. The phenotype of the patient is compatible with OCS, and the detected variants may explain the disease genetically.
Introduction: The CHEK2 gene is known to be an important signal transducer involved in DNA repair, apoptosis, or cell cycle arrest in response to DNA damage. The mutations in this gene have been associated with a wide range of cancers, both sporadic and hereditary. Germline CHEK2 mutations are linked to an increased risk of breast cancer. Therefore, the aim of this study was to identify the prevalence of CHEK2 variants in BRCA1/2 and PALB2 negative early-onset patients with breast cancer and/or ovarian cancer in a Turkish population for the first time.
Methods: The study included 95 patients with BRCA1/2 and PALB2 negative early-onset breast cancer and/or ovarian cancer and also 60 unaffected women. All the intron/exon boundaries and coding exons of CHEK2 were subjected to mutational analysis by heteroduplex analysis and DNA sequencing.
Results: A total of 16 CHEK2 variants were found in breast cancer patients within the Turkish population. CHEK2 c.1100delC mutation studied in the CHEK2 gene most frequently was not detected in our study. The prevalence of variants of uncertain significance in CHEK2 was found to be 7.3% (n= 7) in BRCA1/2 and PALB2 mutation negative Turkish patients with early-onset breast and/or ovarian cancer.
Discussion/Conclusion: The present study may shed light on alternative variations that could be significant for understanding the prevalence and clinical suitability of the CHEK2 gene.
Introduction:
Recent research into multiple sclerosis (MS) has focused on the role of microRNAs (miRNAs) in the development of the disease. This study was designed to analyze miR-146a expression in whole blood and fecal samples of patients with MS. The study aimed to analyze clinical data using the miR-146a expression values obtained.
Subjects and Methods:
This study included patients with relapsing–remitting MS (RRMS) (n = 53), clinically isolated syndrome (CIS) (n = 15), and healthy controls (n = 26). Total RNA was isolated from the participants' whole blood and fecal samples. RNA extraction was performed using QIAamp RNA Blood Mini Kits for blood samples and RNeasy PowerMicrobiome Kits for feces. miR-146a expressions were studied using real-time polymerase chain reaction. Finally, relative expression was correlated with clinicopathologic factors.
Results:
MiR-146a expression was significantly decreased in the whole blood (P < 0.001) and fecal samples (P = 0.036) of patients with RRMS. There was no significant difference in the miR-146a expression rate between patients with CIS and controls. Moreover, the miR-146a expression level in patients with RRMS was decreased compared with those with CIS (P < 0.001). A significant association was determined between miR-146a expression and sex in blood samples. When sex stratification was applied to expression values obtained from fecal samples, miR-146a expression was downregulated only in females (P = 0.008).
Discussion:
miRNAs play an essential role in maintaining the stable course of MS, and this process has some sex-specific differences. Expression of fecal miR-146a may be used as a biomarker to diagnose and predict prognosis in patients with RRMS.
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