ABSTRACT
Molecular diagnosis of inborn errors of immunity (IEI) plays a critical role in determining patients' long-term prognosis, treatment options, and genetic counseling. Over the past decade, the broader utilization of next-generation sequencing (NGS) techniques in both research and clinical settings has facilitated the evaluation of a significant proportion of patients for gene variants associated with IEI. In addition to its role in diagnosing known gene defects, the application of high-throughput techniques such as targeted, exome, and genome sequencing has led to the identification of novel disease-causing genes. However, the results obtained from these different methods can vary depending on disease phenotypes or patient characteristics. In this study, we conducted whole-exome sequencing (WES) in a sizable cohort of IEI patients, consisting of 303 individuals from 21 different clinical immunology centers in Türkiye. Our analysis resulted in likely genetic diagnoses for 41.1% of the patients (122 out of 297), revealing 52 novel variants and uncovering potential new IEI genes in six patients. The significance of understanding outcomes across various IEI cohorts cannot be overstated, and we believe that our findings will make a valuable contribution to the existing literature and foster collaborative research between clinicians and basic science researchers.
Subject(s)
Exome Sequencing , High-Throughput Nucleotide Sequencing , Humans , Male , Female , Immunologic Deficiency Syndromes/genetics , Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/immunology , Genetic Predisposition to Disease , Child , Child, Preschool , Mutation/genetics , Genetic Testing/methods , Infant , Exome/genetics , AdolescentABSTRACT
This study investigated adult listeners' ability to detect age-related cues in child-directed speech (CDS). Participants (N = 186) listened to two speech recordings directed at children between the ages of 6 and 44 months and guessed which had addressed a younger or an older child. The recordings came from North American English-speaking mothers and listeners were native speakers of Turkish with varying degrees of English knowledge. Participants were randomly assigned to listen either to the original recordings or to the low-pass filtered versions. Accuracy was above chance level across all groups. Participants' English level, age, and the age difference between the addressees significantly predicted accuracy. After controlling for these variables, we found a significant effect of condition. Participants' accuracy tended to be better in the unfiltered condition with the exception of male participants without children. These results suggest that age-related variations in CDS are perceptually available to adult listeners. Furthermore, even though sensitivity to the age-related cues is facilitated by the availability of content-related cues in speech, it does not seem to be solely dependent on these cues, providing further support for the form-function relations in CDS.
