Reply to ‘contribution of the MRPS22 variant and a down mosaic to the phenotype’
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Lettter to the Editor.
We would like to respond to the questions raised by Finsterer and Zarrouk-Mahjoub (2018) and thank them for their interest and suggestions on our case report. We tried to provide as much clinical detail as possible in our case report.
We presented a case concerning a 4-month-old severely affected male infant. The child manifested such symptoms as mild dysmorphism, central hypotonia, developmental delay, dysphagia. Laboratory findings revealed, among others, mild lactic acidemia and presence of Krebs-cycle intermediates in urine. Brain MR imaging performed 10 months after the initial presentation showed symmetrical bilateral brainstem and medial thalamic lesions and cerebellar and cerebral atrophy. Whole exome sequencing revealed a homozygous splicing mutation c.339+5 G>A in MRPS22 gene but also other variations in different genes (CARS2, SNX13, TBCK, EGFL7, PLP1). Chromosome analysis showed mosaic Down syndrome pattern (47,XY,+21/46,XY). Based on overall...
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Conflict of interest
There are no conflicts of interest.