#301021
Table of Contents
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 30 (MC1DN30) is caused by hemizygous mutation in the NDUFB11 gene (300403) on chromosome Xp11. One such patient has been reported.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Kohda et al. (2016) reported a male infant (patient 067) with lethal mitochondrial complex I deficiency. The patient had intrauterine growth restriction, premature birth, heart failure, respiratory failure, and metabolic acidosis; he died at 55 hours of age. He had redundant skin but no linear skin defects.
In a male infant (patient 067) with lethal mitochondrial complex I deficiency nuclear type 30, Kohda et al. (2016) identified a de novo hemizygous missense mutation in the NDUFB11 gene (E121K; 300403.0003). The mutation, which was found by high-throughput exome sequencing of 142 patients with childhood-onset mitochondrial respiratory chain disorders, was confirmed by Sanger sequencing.
Kohda, M., Tokuzawa, Y., Kishita, Y., Nyuzuki, H., Moriyama, Y., Mizuno, Y., Hirata, T., Yatsuka, Y., Yamashita-Sugahara, Y., Nakachi, Y., Kato, H., Okuda, A., and 23 others. A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PLoS Genet. 12: e1005679, 2016. Note: Electronic Article. [PubMed: 26741492, related citations] [Full Text]
ORPHA: 2609; DO: 0112098;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| Xp11.3 | ?Mitochondrial complex I deficiency, nuclear type 30 | 301021 | X-linked | 3 | NDUFB11 | 300403 |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 30 (MC1DN30) is caused by hemizygous mutation in the NDUFB11 gene (300403) on chromosome Xp11. One such patient has been reported.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Kohda et al. (2016) reported a male infant (patient 067) with lethal mitochondrial complex I deficiency. The patient had intrauterine growth restriction, premature birth, heart failure, respiratory failure, and metabolic acidosis; he died at 55 hours of age. He had redundant skin but no linear skin defects.
In a male infant (patient 067) with lethal mitochondrial complex I deficiency nuclear type 30, Kohda et al. (2016) identified a de novo hemizygous missense mutation in the NDUFB11 gene (E121K; 300403.0003). The mutation, which was found by high-throughput exome sequencing of 142 patients with childhood-onset mitochondrial respiratory chain disorders, was confirmed by Sanger sequencing.
Kohda, M., Tokuzawa, Y., Kishita, Y., Nyuzuki, H., Moriyama, Y., Mizuno, Y., Hirata, T., Yatsuka, Y., Yamashita-Sugahara, Y., Nakachi, Y., Kato, H., Okuda, A., and 23 others. A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PLoS Genet. 12: e1005679, 2016. Note: Electronic Article. [PubMed: 26741492] [Full Text: https://doi.org/10.1371/journal.pgen.1005679]
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