| Chapter title |
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.
|
|---|---|
| Chapter number | 322 |
| Book title |
JIMD Reports Volume 16
|
| Published in |
JIMD Reports, July 2014
|
| DOI | 10.1007/8904_2014_322 |
| Pubmed ID | |
| Book ISBNs |
978-3-66-244586-0, 978-3-66-244587-7
|
| Authors |
Heidi S. Lumish, Yaping Yang, Fan Xia, Ashley Wilson, Wendy K. Chung, Lumish, Heidi S., Yang, Yaping, Xia, Fan, Wilson, Ashley, Chung, Wendy K. |
| Abstract |
The inborn errors of metabolism associated with 3-methylglutaconic aciduria are a diverse group of disorders characterized by the excretion of 3-methylglutaconic and 3-methylglutaric acids in the urine. Mutations in several genes have been identified in association with 3-methylglutaconic aciduria. We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy. The patient had an earlier age of onset of optic atrophy than previously described in other MEGDEL syndrome patients. Whole exome sequencing revealed two loss-of-function mutations in SERAC1 in trans: c.438delC (p.T147Rfs*22) and c.442C>T (p.R148X), confirmed by Sanger sequencing. One of these mutations is novel (c.438delC). This case contributes to refining the MEGDEL phenotype. |
Mendeley readers
Geographical breakdown
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|---|---|---|
| Unknown | 19 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 21% |
| Student > Bachelor | 2 | 11% |
| Other | 2 | 11% |
| Student > Ph. D. Student | 2 | 11% |
| Student > Postgraduate | 2 | 11% |
| Other | 4 | 21% |
| Unknown | 3 | 16% |
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|---|---|---|
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| Biochemistry, Genetics and Molecular Biology | 2 | 11% |
| Neuroscience | 1 | 5% |
| Engineering | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 5 | 26% |