Yuto Kondo

Ichinomiya Municipal City Hospital

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Field

An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant

Human Genome Variation (2021)

Saki Noda Kohei Aoyama Yuto Kondo Jun Okamura Atsushi Suzuki

Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an infant who was diagnosed with PHA1A due to hyponatremia, hyperkalemia, and poor weight gain in the neonatal period. She carried a novel heterozygous mutation (NM_000901.5: c.1757 + 1 G > C) in the splice donor site of IVS-2 in NR3C2.

Pseudohypoaldosteronism

Haploinsufficiency

10.1038/s41439-021-00173-7

Cite

Citations (3)

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

Human Genome Variation (2020)

Yuto Kondo Kohei Aoyama Hisato Suzuki Ayako Hattori Ikumi Hori

Abstract We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC . TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereas NPPC haploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassing TRIP12 and NPPC .

Haploinsufficiency

10.1038/s41439-020-0107-1

Cite

Citations (2)