BCS1L mutations produce Fanconi syndrome with developmental disability View Full Text


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Article Info

DATE

2021-10-15

AUTHORS

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

ABSTRACT

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 disorders are Fanconi syndrome without systematic active diseases like encephalomyopathy or cardiomyopathy. In this study, we analyzed two families exhibiting Fanconi syndrome, developmental disability and mildly elevated liver enzyme levels. Whole-exome sequencing (WES) detected compound heterozygous known and novel BCS1L mutations, which affect the assembly of mitochondrial respiratory chain complex III, in both cases. The pathogenicity of these mutations has been established in several mitochondria-related functional analyses in this study. Mitochondrial diseases with isolated renal symptoms are uncommon; however, this study indicates that mitochondrial respiratory chain complex III deficiency due to BCS1L mutations cause Fanconi syndrome with developmental disability as the primary indications. More... »

PAGES

143-148

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-021-00984-0

DOI

http://dx.doi.org/10.1038/s10038-021-00984-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1141913784

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/34650211


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23 schema:description 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 disorders are Fanconi syndrome without systematic active diseases like encephalomyopathy or cardiomyopathy. In this study, we analyzed two families exhibiting Fanconi syndrome, developmental disability and mildly elevated liver enzyme levels. Whole-exome sequencing (WES) detected compound heterozygous known and novel BCS1L mutations, which affect the assembly of mitochondrial respiratory chain complex III, in both cases. The pathogenicity of these mutations has been established in several mitochondria-related functional analyses in this study. Mitochondrial diseases with isolated renal symptoms are uncommon; however, this study indicates that mitochondrial respiratory chain complex III deficiency due to BCS1L mutations cause Fanconi syndrome with developmental disability as the primary indications.
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31 acidosis
32 active disease
33 advancement
34 analysis
35 analysis technology
36 assembly
37 cases
38 causative genes
39 chain
40 clinical symptoms
41 compounds
42 deficiency
43 developmental disabilities
44 disability
45 disease
46 disorders
47 elevated liver enzyme levels
48 encephalomyopathy
49 enzyme levels
50 family
51 functional analysis
52 functional disorders
53 gene analysis technology
54 genes
55 glucosuria
56 hypophosphatemia
57 indications
58 levels
59 liver enzyme levels
60 main clinical symptoms
61 metabolic acidosis
62 mitochondrial disease
63 mitochondrial respiratory chain
64 mutations
65 pathogenicity
66 primary indication
67 proximal tubules
68 renal symptoms
69 respiratory chain
70 sequencing
71 study
72 such disorders
73 symptoms
74 syndrome
75 systemic symptoms
76 technology
77 tubules
78 whole-exome sequencing
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