Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion
, Lucia Grillo 1, Flaviana Elia 2, Maria Concetta Giambirtone 1, Maria Grazia Figura 3, Biagio Rizzo 4, Serafino Buono 2 and Corrado Romano 5,6,*
Round 1
Reviewer 1 Report
The case report of Galesi et al. suggests a potential genetic backgroud of Dyslexia and Reading Disability. Authors provide a detailed phenotype and critically evaluate the findings. Conclusions are based on the results and they are careful.
I have just a few small suggestions:
1. Introduction can be developed e.g. on the genes involved in RD
2. Are there any data on in how many % of cases ADHD and RD overlap?
3. Line 36 "To date, very few studies..." please provide refrence
4. Line 43 "Two family members showed paranoid schizophrenia and epilepsy"-please specify relation of them to the patient (cousins? parents?). Did there have RD? Have they been tested genetically?
5. It would be helpful to list and shortly decribed seven involved genes in the table in addition to the already provided decription in the main text.
6. Did the patients obteined any other type of genetic testing apart from CMA?
Author Response
Troina, 20th October 2022
Dear Editor and Reviewers:
First, let me say that, on behalf of all authors, I greatly appreciated the constructive revision of our MS Grnes_1968506 you have suggested. The current revised version appears to us an improved MS, and we hope it would be suitable for publication in “Genes”.
You find as follows our point-by-point responses to your comments, questions, and suggestions.
Reviewer 1
The case report of Galesi et al. suggests a potential genetic background of Dyslexia and Reading Disability. Authors provide a detailed phenotype and critically evaluate the findings. Conclusions are based on the results and they are careful.
I have just a few small suggestions:
1. Introduction can be dev eloped e.g. on the genes involved in RD
Response: We developed the Introduction with the genes involved in RD.
2. Are there any data on in how many % of cases ADHD and RD overlap?
Response: We added reported data about ADHD and RD overlap.
3. Line 36 "To date, very few studies..." please provide refrence
Response: We provided the reference.
4. Line 43 "Two family members showed paranoid schizophrenia and epilepsy"-please specify relation of them to the patient (cousins? parents?). Did there have RD? Have they been tested genetically?
Response: We answered within the text to all questions.
5. It would be helpful to list and shortly decribed seven involved genes in the table in addition to the already provided decription in the main text.
Response: We added a column with the overlapping genes.
6. Did the patients obteined any other type of genetic testing apart from CMA?
Response: No additional genetic testing was performed.
Reviewer 2
The manuscript is a case report of a proband with diagnosis of ADHD and dyslexia. A structural variant analysis with chromosomal microarray analysis (CMA) showed a de novo deletion encompassing 7 genes. The manuscript is clear, very pleasant to read, and has novelty to be considered for publication. The authors consider in details the potential contribution to RD of these genes, and make a very nice table for comparisons with other cases bearing the deletions at that locus. I have very few suggestions to clarify some of the points:
1) Please detail exactly the family relationships between the proband and the family member with schizophrenia.
Response: We added the required information.
2) Discussion: How do you know that KIAA0319L deletion lead to haploinsufficiency? Do you have data? If not, then make this sentence as a hypothetical phrase: not all the deletions lead to haploinsufficiency.
Response: We thank the reviewer for this suggestion and made the haploinsufficiency as a possibility.
We provided a revised version of our MS, using track changes.
Best regards
Prof. Corrado Romano
On behalf of all authors
Reviewer 2 Report
The manuscript is a case report of a proband with diagnosis of ADHD and dyslexia. A structural variant analysis with chromosomal microarray analysis (CMA) showed a de novo deletion encompassing 7 genes. The manuscript is clear, very pleasant to read, and has novelty to be considered for publication. The authors consider in details the potential contribution to RD of these genes, and make a very nice table for comparisons with other cases bearing the deletions at that locus. I have very few suggestions to clarify some of the points:
1) Please detail exactly the family relationships between the proband and the family member with schizophrenia.
2) Discussion: How do you know that KIAA0319L deletion lead to haploinsufficiency? Do you have data? If not, then make this sentence as a hypothetical phrase: not all the deletions lead to haploinsufficiency.
Author Response
Troina, 20th October 2022
Dear Editor and Reviewers:
First, let me say that, on behalf of all authors, I greatly appreciated the constructive revision of our MS Grnes_1968506 you have suggested. The current revised version appears to us an improved MS, and we hope it would be suitable for publication in “Genes”.
You find as follows our point-by-point responses to your comments, questions, and suggestions.
Reviewer 1
The case report of Galesi et al. suggests a potential genetic background of Dyslexia and Reading Disability. Authors provide a detailed phenotype and critically evaluate the findings. Conclusions are based on the results and they are careful.
I have just a few small suggestions:
1. Introduction can be dev eloped e.g. on the genes involved in RD
Response: We developed the Introduction with the genes involved in RD.
2. Are there any data on in how many % of cases ADHD and RD overlap?
Response: We added reported data about ADHD and RD overlap.
3. Line 36 "To date, very few studies..." please provide refrence
Response: We provided the reference.
4. Line 43 "Two family members showed paranoid schizophrenia and epilepsy"-please specify relation of them to the patient (cousins? parents?). Did there have RD? Have they been tested genetically?
Response: We answered within the text to all questions.
5. It would be helpful to list and shortly decribed seven involved genes in the table in addition to the already provided decription in the main text.
Response: We added a column with the overlapping genes.
6. Did the patients obteined any other type of genetic testing apart from CMA?
Response: No additional genetic testing was performed.
Reviewer 2
The manuscript is a case report of a proband with diagnosis of ADHD and dyslexia. A structural variant analysis with chromosomal microarray analysis (CMA) showed a de novo deletion encompassing 7 genes. The manuscript is clear, very pleasant to read, and has novelty to be considered for publication. The authors consider in details the potential contribution to RD of these genes, and make a very nice table for comparisons with other cases bearing the deletions at that locus. I have very few suggestions to clarify some of the points:
1) Please detail exactly the family relationships between the proband and the family member with schizophrenia.
Response: We added the required information.
2) Discussion: How do you know that KIAA0319L deletion lead to haploinsufficiency? Do you have data? If not, then make this sentence as a hypothetical phrase: not all the deletions lead to haploinsufficiency.
Response: We thank the reviewer for this suggestion and made the haploinsufficiency as a possibility.
We provided a revised version of our MS, using track changes.
Best regards
Prof. Corrado Romano
On behalf of all authors
