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Shuichi Yatsuga

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Open access Jan 2026

A Suspected Mosaic 3q29 Deletion in a Patient With Autism Spectrum Disorder and Multiple Micronutrient Deficiencies: A Case Report

Background 3q29 deletion syndrome (MIM #609425) is a rare genomic disorder characterized by variable expressivity and incomplete penetrance. Somatic mosaicism for a 3q29 deletion in an affected proband has rarely been documented. Mosaicism inferred from attenuation of the array signal requires confirmation by an indepe...

Shuichi Yatsuga · 0 citations
Case report Open access Aug 2026

Severe mitochondrial cardiomyopathy with m.3303C > T variant in the mitochondrial tRNALeu(UUR) gene: A study of large family analysis

This study demonstrates that the m.3303C > T variant exhibited, within this family, an exceptionally high threshold effect, with severe phenotypes manifesting only at very high heteroplasmy levels (>90%), and highlights the importance of family screening for genetic counseling.

Shuichi Yatsuga · 1 citation · ⚡1

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