An unstable variant of GAP43 leads to neurodevelopmental deficiency.

Growth-associated protein 43 (GAP43) is a membrane-associated phosphoprotein predominantly expressed in the nervous systems, and controls axonal growth, branching, and pathfinding. While the association between GAP43 and human neurological disorders have been reported, the underlying mechanisms remain largely unknown. We performed whole exome sequencing on a patient with intellectual disability (ID), neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities, and identified a heterozygous missense variation in the GAP43 gene [NM_001130064.

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Objective: Temple syndrome (TS14) is a rare 14q32.2-related imprinting disorder. Here, we report comprehensive clinical findings in TS14.

Loss of function in causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

Purpose: Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by heterozygous deletions of the distal short arm of chromosome 4 that includes , reportedly causes specific DNA methylation signatures in peripheral blood cells. However, the genomic loci responsible for these signatures have not been elucidated. The present study aims to define the loci underlying WHS-related DNA methylation signatures and explore the role of in these signatures.

Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients.

Context: Defects in MKRN3, DLK1, KISS1, and KISS1R and some disorders, such as Temple syndrome (TS14), cause central precocious puberty (CPP). Recently, pathogenic variants (PVs) in MECP2 have been reported to be associated with CPP.

Objective: We aimed to clarify the contribution of (epi)genetic abnormalities to CPP and clinical and hormonal features in each etiology.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Background: Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with imprinting disorders have DNA methylation changes at multiple imprinted loci, a condition referred to as multi-locus imprinting disturbance (MLID). MLID is recognised in most but not all imprinting disorders and is also found in individuals with atypical clinical features; the presence of MLID often alters the management or prognosis of the affected person.

Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review.

Silver-Russell syndrome (SRS) is a representative imprinting disorder characterized by pre- and postnatal growth failure. We encountered two Japanese SRS cases with a de novo pathogenic frameshift variant of HMGA2 (NM_003483.6:c.

A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus.

We herein present the case of a 21-year-old male Japanese diabetic patient with Temple syndrome, caused by maternal uniparental disomy of chromosome 14. The patient was overweight and had type 2 diabetes, dyslipidemia, metabolic dysfunction-associated steatotic liver disease, and microalbuminuria. He had an increased fat mass in the truncal region and a decreased lean mass throughout the body.

Sustenance Trial to Analyze the Effects of Black Soldier Fly Larvae Meal on the Reproductive Efficiency of Sows and the Hematological Properties of Suckling and Weaning Piglets.

The escalating demand for meat, driven by global population growth, necessitates sustainable solutions for animal feed production. This study investigated the effects of substituting conventional protein resources in sow and piglet dietary regimens with black soldier fly (BSF; ) meal on reproductive efficiency, blood profile, piglet growth, and intestinal tissue morphology. The results indicate that substituting animal-derived and soy proteins with BSF meal does not compromise sow reproductive performance.

Novel parasitic chytrids infecting snow algae in an alpine snow ecosystem in Japan.

Introduction: Microbial communities are important components of glacier and snowpack ecosystems that influence biogeochemical cycles and snow/ice melt. Recent environmental DNA surveys have revealed that chytrids dominate the fungal communities in polar and alpine snowpacks. These could be parasitic chytrids that infect snow algae as observed microscopically.

Imprinting disorders.

Imprinting disorders (ImpDis) are congenital conditions that are characterized by disturbances of genomic imprinting. The most common individual ImpDis are Prader-Willi syndrome, Angelman syndrome and Beckwith-Wiedemann syndrome. Individual ImpDis have similar clinical features, such as growth disturbances and developmental delay, but the disorders are heterogeneous and the key clinical manifestations are often non-specific, rendering diagnosis difficult.

High prevalence of parasitic chytrids infection of glacier algae in cryoconite holes in Alaska.

Glacier algae, which are photosynthetic microbes growing on ice, considerably reduce the surface albedo of glaciers and accelerate their melting rate. Although the growth of glacier algae can be suppressed by parasitic chytrids, the impact of chytrids on algal populations is still largely unknown. In this study, we described the morphology of the chytrid infecting the glacier alga Ancylonema nordenskioeldii and quantified the prevalence of infection in different habitats on a mountain glacier in Alaska, USA.

Fungal parasitism on diatoms alters formation and bio-physical properties of sinking aggregates.

Phytoplankton forms the base of aquatic food webs and element cycling in diverse aquatic systems. The fate of phytoplankton-derived organic matter, however, often remains unresolved as it is controlled by complex, interlinked remineralization and sedimentation processes. We here investigate a rarely considered control mechanism on sinking organic matter fluxes: fungal parasites infecting phytoplankton.

Point radiance calculation of GI-MMF and its application in a fiber connection.

Graded-index multimode fiber (GI-MMF) is advantageous for low modal dispersion over its counterpart step-index multimode fiber, which renders it highly suitable for high-speed data transmission in short-range data links. To date, several theories and calculation methods have been proposed for MMF transmission and connection, most of which are based on geometric optics. Although the basic principle is extremely simple, the manipulation of the modal power distribution (MPD) variation along the transmission line that considerably affects the channel bandwidth still poses several challenges.

The new chytridiomycete Paradinomyces triforaminorum gen. et sp. nov. co-occurs with other parasitoids during a Kryptoperidinium foliaceum (Dinophyceae) bloom in the Baltic Sea.

A new chytrid genus and species was isolated and cultured from samples obtained in the Baltic Sea during a dinoflagellate bloom event. This species is characterized by having a spherical sporangium without papillae and zoospores of 2-3 µm in diameter that are released through 3 discharge pores. Molecular phylogeny based on ribosomal operon showed its sister position to the Dinomyces cluster in Rhizophydiales.

Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR.

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with characteristic features, such as overgrowth, macroglossia, and exomphalos. Hypomethylation of the KCNQ1OT1:TSS-differentially methylated region (DMR) on the 11p15.5 imprinted region is the most common etiology of BWS.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

Background: Imprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed from only one parental allele. Disease may result from changes in coding sequences, copy number changes, uniparental disomy or imprinting defects. Some imprinting disorders are clinically heterogeneous, some are associated with more than one imprinted locus, and some patients have alterations affecting multiple loci.

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a maternally inherited splicing variant in ASL on chromosome 7, leading to the onset of argininosuccinic aciduria.

Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome.

Kagami-Ogata syndrome (KOS14) is a rare disease characterized by omphalocele, polyhydramnios and a bell-shaped thorax. Although the coat-hanger appearance of the ribs on postnatal X-rays is a key diagnostic finding of KOS14, its prenatal diagnosis remains challenging. We encountered a case of KOS14 diagnosed prenatally that showed omphalocele, polyhydramnios, and a bell-shaped narrow thorax.