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Article

BCS1L mutations produce Fanconi syndrome with developmental disability.

Journal of human genetics - 1 Mar 2022

Kanako Kojima-Ishii, Sakakibara Nana, Murayama Kei, Nagatani Koji, Murata Satoshi, Otake Akira, Koga Yasutoshi, Suzuki Hisato, Uehara Tomoko, Kosaki Kenjiro, Yoshiura Koh-Ichiro, Mishima Hiroyuki, Ichimiya Yuko, Mushimoto Yuichi, Horinouchi Tomoko, Nagano China, Yamamura Tomohiko, Iijima Kazumoto, Nozu Kandai

Abstract excerpt

Fanconi syndrome is a functional disorder of the proximal tubule, characterized by pan-aminoaciduria, glucosuria, hypophosphatemia, and metabolic acidosis. With the advancements in gene analysis technologies, several causative genes are identified for Fanconi syndrome. Several mitochondrial diseases cause Fanconi syndrome and various systemic symptoms; however, it is rare that the main clinical symptoms in such...

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PMID: 34650211
DOI: 10.1038/s10038-021-00984-0

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