Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV000414839 | SCV000328800 | likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 2014-06-23 | no assertion criteria provided | clinical testing | A de novo missense change in the DNM1L has been reported in an infant with a lethal encephalopathy due to defective mitochondrial and peroxisomal fission [OMIM:614388; PMID: 17460227]. The previously reported patient had a history of diminished fetal movements during pregnancy, and presented with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation, abnormal gyral pattern, dysmyelination, persistent lactic acidemia and mildly elevated plasma concentration of very long-chain fatty acids [PMID: 17460227]. Our lab has reported a de novo missense change in an individual with features that include hypotonia, apnea, lactic acidosis, and a prenatal history of intrauterine growth restriction, hydrocephalus, cystic kidneys and concern for aortic coarctation. A brain MRI showed microcephaly, simplified gyral pattern, diffuse reduction in the cerebral white matter volume, agenesis of the corpus callosum, marked lateral ventriculomegaly, volume loss and irregularity along the interior cerebellar hemispheres, and a small brainstem. A variant in PDHA1 (NM_001173455.1, c.448G>A) was also reported in this individual. |