Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment
, Anika Ménétrey 2, Urs Graf 1, Luzy Bähr 1, Alessandro Maspoli 1, Annette Hackenberg 2, Raimund Kottke 3, Christina Gerth-Kahlert 4 and Wolfgang Berger 1,5,6,*
Round 1
Reviewer 1 Report
This is a well written paper and I only have two minor comments. The first is that ClinGen is updating guidance for use of ACMG/AMP pathogenicity criteria and their current guidance should be followed when reporting on pathogenicity classifications of variants. You can read the guidance at https://clinicalgenome.org/working-groups/sequence-variant-interpretation/, however, I have two suggestions. PM2 is now suggested to be used at supporting not at moderate and PP3 should not be used in conjunction with PVS1 (PMID: 30192042). The variant will still classify as pathogenic. My other suggestion is to include two additional variants found in the following publications (from HGMD), PMID:32552793 and PMID:31054490.
Author Response
Please see attachment.
Author Response File: 
Author Response.docx
Reviewer 2 Report
Major issues
As a case report, this is a well written paper. However, EIEE aka Ohtahara syndrome is well known that has gene mutation. Even though this gene is the first case, I do not think that this case report significantly contributes to the medical field.
Minor issue
MRI my be okay to use, but EEG etc. should be clearly written at first use.
Author Response
Please see attachement.
Author Response File: Author Response.docx
Round 2
Reviewer 2 Report
As I have already commented that a case that showed rareness is not good enough.
