De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype

The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H+ symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in SLC25A22 gene (c.97A>G; p.Lys33Glu), as the likely cause of the disease. The phenotype of our patient and EEG recordings do not completely overlap with the phenotypes previously described, leading to a new and more complex form of disease associated with SLC25A22 variants, characterized by dyskinetic movements and oculogyric crisis

Vowel variability in elicited versus spontaneous speech: Evidence from Mixtec

This study investigates the influence of speech style, duration, contextual factors, and sex on vowel dispersion and variability in Yoloxóchitl Mixtec, an endangered language spoken in Mexico. Oral vowels were examined from recordings of elicited citation words and spontaneous narrative speech matched across seven speakers. Results show spontaneous speech to contain shorter vowel durations and stronger effects of contextual assimilation than elicited speech. The vowel space is less disperse and there is greater intra-vowel variability in spontaneous speech than in elicited speech. Furthermore, male speakers show smaller differences in vowel dispersion and duration across styles than female speakers do. These phonetic differences across speech styles are not entirely reducible to durational differences; rather, speakers also seem to adjust their articulatory/acoustic precision in accordance with style. Despite the stylistic differences, we find robust acoustic differences between vowels in spontaneous speech, maintaining the overall vowel space pattern. While style and durational changes produce noticeable differences in vowel acoustics, one can closely approximate the phonetics of a vowel system of an endangered language from narrative speech. Elicited speech is likelier to give the most extreme formants used by the language than is spontaneous speech, but the usefulness of phonetic data from spontaneous speech has still been demonstrated

Speech Style Effects on Local and Non-local Coarticulation in French

International audienc

A pleiotropic variant in <I>DNAJB4</I> is associated with multiple myeloma risk

Pleiotropy, which consists of a single gene or allelic variant affecting multiple unrelated traits, is common across cancers, with evidence for genome-wide significant loci shared across cancer and noncancer traits. This feature is particularly relevant in multiple myeloma (MM) because several susceptibility loci that have been identified to date are pleiotropic. Therefore, the aim of this study was to identify novel pleiotropic variants involved in MM risk using 28 684 independent single nucleotide polymorphisms (SNPs) from GWAS Catalog that reached a significant association (P