The role of semantic processing in reading Japanese orthographies : an investigation using a script-switch paradigm

Research on Japanese reading has generally indicated that processing of the logographic script Kanji primarily involves whole-word lexical processing and follows a semantics-to-phonology route, while the two phonological scripts Hiragana and Katakana (collectively called Kana) are processed via a sub-lexical route, and more in a phonology-to-semantics manner. Therefore, switching between the two scripts often involves switching between two reading processes, which results in a delayed response for the second script (a script switch cost). In the present study, participants responded to pairs of words that were written either in the same orthography (within-script), or in two different Japanese orthographies (cross-script), switching either between Kanji and Hiragana, or between Katakana and Hiragana. They were asked to read the words aloud (Experiments 1 and 3) and to make a semantic decision about them (Experiments 2 and 4). In contrast to initial predictions, a clear switch cost was observed when participants switched between the two Kana scripts, while script switch costs were less consistent when participants switched between Kanji and Hiragana. This indicates that there are distinct processes involved in reading of the two types of Kana, where Hiragana reading appears to bear some similarities to Kanji processing. This suggests that the role of semantic processing in Hiragana (but not Katakana) reading is more prominent than previously thought and thus, Hiragana is not likely to be processed strictly phonologically. First Online: 08 November 2017</p

Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy

Perinatal mortality is a heavy burden for both affected parents and physicians. However, the underlying genetic causes have not been sufficiently investigated and most cases remain without diagnosis. This impedes appropriate counseling or therapy. We describe four affected children of two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. In the four patients, we found the following homozygous loss of function (LoF) variants in SLC30A5 NM_022902.4:c.832_836del p.(Ile278Phefs*33) and NM_022902.4:c.1981_1982del p.(His661Tyrfs*10). Knockout of SLC30A5 has previously been shown a cardiac phenotype in mouse models and no homozygous LoF variants in SLC30A5 are currently described in gnomAD. Taken together, we present SLC30A5 as a new gene for a severe and perinatally lethal form of cardiomyopathy