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Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

European Journal of Human Genetics volume 30, pages 998–999 (2022)Cite this article

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TO THE EDITOR:

We appreciate the opportunity to reply to the Pubpeer contributors who commented on our paper ‘Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1’ [1]. A series of 15 patients with de novo 6q16 deletions was reported in this article, including the first patient with fetopathological data. Using ‘Oxychilus pilula’ and ‘Haemonchus contortus’ as pseudonyme, Pubpeer contributors raised several questions on the neuropathological examination of this foetus (https://www.pubpeer.com/publications/7DE7D7315929E33A513493198D2B2F#1).

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Data availability

The fetopathological study of Patient no. 1 was previously reported [1]. Genotype and phenotype data can be found in the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER ID: 292285; https://decipher.sanger.ac.uk/patient/292285). All data analysed for this correspondence are included in the Supplementary Information files.

References

  1. El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, et al. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. Eur J Hum Genet. 2015;23:1010–8.

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  2. Lévy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, et al. EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder. Clin Genet. 2021;100:396–404.

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Funding

There was no specific funding. FG and LEK are both associate-professor of Université Paris Cité and consultant at Assistance Publique des Hôpitaux de Paris (AP-HP). ADD is professor of Université Sorbonne Paris Nord and consultant at AP-HP.

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Authors and Affiliations

  1. Department of Cytogenetics, AP-HP, Hôpital Cochin, Paris, France

    Laila El Khattabi

  2. Fetal pathology Unit, AP-HP, Hôpital Robert Debré, Paris, France

    Fabien Guimiot

  3. Université Paris Cité, Inserm, U1141 NeuroDiderot, Paris, France

    Fabien Guimiot & Andrée Delahaye-Duriez

  4. FHU I2D2, Université Paris Cité, AP-HP, Hôpital Robert Debré, Paris, France

    Fabien Guimiot & Andrée Delahaye-Duriez

  5. UFR SMBH, Université Sorbonne Paris Nord, Bobigny, France

    Andrée Delahaye-Duriez

  6. Medical genomics and clinical genetics unit, AP-HP, Hôpital Jean Verdier, Bondy, France

    Andrée Delahaye-Duriez

Authors
  1. Laila El Khattabi
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  2. Fabien Guimiot
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  3. Andrée Delahaye-Duriez
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Contributions

FG performed the additional staining and immunohistochemistry for the neuropathological examination. FG and ADD conceived the Supplementary Figures. LEK, FG and ADD wrote the correspondence. ADD coordinated the work. All authors have approved the final correspondence.

Corresponding author

Correspondence to Andrée Delahaye-Duriez.

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Competing interests

The authors declare no competing interests.

Ethics approval

Informed consent was obtained from the parents for the autopsy.

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El Khattabi, L., Guimiot, F. & Delahaye-Duriez, A. Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. Eur J Hum Genet 30, 998–999 (2022). https://doi.org/10.1038/s41431-022-01110-0

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  • DOI: https://doi.org/10.1038/s41431-022-01110-0

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