Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Purpose:Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).Methods:After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes.Results:We detected ARNSD-causing variants in 90 (56) families, 54 of which had not been previously reported. Identified mutations were located in 31 known ARNSD genes. The most common genes with mutations were MYO15A (13), MYO7A (11), SLC26A4 (10), TMPRSS3 (9), TMC1 (8), ILDR1 (6), and CDH23 (4). Nine mutations were detected in multiple families with shared haplotypes, suggesting founder effects.Conclusion:We report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56 of the families. In the remaining families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.Genet Med 18 4, 364-371. © American College of Medical Genetics and Genomics

Supplementary Material for: Processes of Emotion Idioms Comprehension of Turkish-Speaking People with Wernice's Aphasia

Introduction: Idioms are commonly used in everyday language to convey emotions figuratively. The ability to comprehend and use idioms that incorporate emotional elements is crucial for effective communication in daily life, particularly among people with aphasia (PwA). Despite the interest in understanding the process of emotion idiom comprehension in PwA, limited information is available in the literature. Therefore, this study aimed to investigate the process of emotion idiom comprehension in people with Wernice's aphasia (PwWA) and compare it with that of neurotypical individuals. Methods: Sixty idioms were selected based on their syntactic and semantic features, and participants evaluated their imageability. Sixteen idioms were chosen for the study and two types of tasks were prepared: written idiom-picture matching and written idiom-written text matching. These tasks were administered to two groups: 11 PwWA and 11 neurotypical individuals. The results were analysed in terms of task performance, response type, syntactic and semantic features, and emotional content. Results: The emotion idiom comprehension scores of PwWA group were significantly lower than those of the neurotypical participants. PwWA had greater difficulty with the written idiom-picture matching task and tended to rely on the literal meanings of the idioms. There were differences in the semantic features between the two groups. Among the emotional idioms, PwWA showed significant differences in the types of emotions they were able to comprehend. Conclusions: The findings of this study suggest that regardless of the syntactic content of idioms, PwWA's ability to comprehend emotion idioms is impaired, and they tend to interpret them more literally. This study provides a useful method for assessing emotional idiom comprehension in PwA

The evaluation of renal parenchymal scarring using static renal scintigraphy after percutaneous nephrolithotomy operations

Objective: To analyze whether operative techniques and other variables related to patient and renal stone characteristics affect potential renal parenchymal damage.Materials and Methods: The study population comprised 64 patients who underwent percutaneous nephrolithotomy operations (PCNL). Data of the operated renal units, renal stone burden, route and number of entries, dilation techniques, duration of surgery, preoperative and postoperative glomerular filtration rate (GFR)and relative dimercaptosuccinic acid (DMSA) uptakes, as well as the changes inhemoglobin values, were recorded and analyzed for all patients.Results: The mean age of the patients was 44 years. In 11 (17.1%) cases, renal cortical defects in the 3rd month were detected on DMSA scintigraphy. When the patients with and without renal cortical defect were compared regarding their preoperative and postoperative GFR values, no statistically significant difference was noticed between the groups (P > 0.05). Similarly, when postoperative relative DMSA uptakes were compared with preoperative relative DMSA uptakes of the same kidneys, no statistical significance was seen. When preoperative relative DMSA uptake values between groups with and without renal scarring were compared, no statistically significant difference was observed (P > 0.05).Conclusion: We did not observe any significant difference in scintigraphic parameters and GFR values. Hence, in the current trial, significant loss in renal function after PCNL operations was not observed. Thus, PCNL operations should be regarded as safe, but still, the risk of loss of kidney function should always be considered.Keywords: Percutaneous nephrolithotomy, renal scar, renal scintigraphy, renalston

TURKISH NATIONAL SEVERE CONGENITAL NEUTROPENIA REGISTRY

WOS: 000440320200028TUBITAKTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK); Turkish Pediatric Hematology AssociationThis study was supported by TUBITAK and Turkish Pediatric Hematology Association