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Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1

Journal of Human Genetics volume 67, pages 675–678 (2022)Cite this article

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Abstract

Pierre-Robin sequence (PRS) is a rare, congenital defect presenting with micrognathia, glossoptosis, and airway obstruction with variable inclusion of a cleft palate. Overlapping PRS with neurofibromatosis type 2 (NF2) is a syndrome caused by a chromosome 22q12 microdeletion including NF2. We describe a patient with severe early-onset NF2 overlapping with PRS that showed micrognathia, glossoptosis, and a mild form of cleft palate. We detected a de novo chromosome 22q12 microdeletion including MN1 and NF2 in the patient. Previous cases of overlapping PRS and NF2 caused by the chromosome 22q12 microdeletions showed severe NF2 phenotypes with variable severity of cleft palate and microdeletions of varying sizes. Genotype-phenotype correlations and comparison of the size and breakpoint of microdeletions suggest that some modifier genes distal to MN1 and NF2 might be linked to the cleft palate severity.

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Acknowledgements

The authors wish to thank the patient and her family for their kind collaboration.

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Authors and Affiliations

  1. Department of Dermatology, Keio University School of Medicine, Tokyo, 160-8582, Japan

    Sonoko Saito, Noriko Ono, Takashi Sasaki, Satomi Aoki, Masayuki Amagai & Akiharu Kubo

  2. Center for Supercentenarian Medical Research, Keio University School of Medicine, Tokyo, 160-8582, Japan

    Takashi Sasaki

  3. Center for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan

    Kenjiro Kosaki

  4. Department of Otolaryngology, Gifu University Graduate School of Medicine, Gifu, 501-1194, Japan

    Bunya Kuze

  5. Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan

    Kazuhiko Nakabayashi

  6. Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, 650-0017, Japan

    Akiharu Kubo

Authors
  1. Sonoko Saito
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  2. Noriko Ono
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  4. Satomi Aoki
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  6. Bunya Kuze
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  7. Kazuhiko Nakabayashi
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  8. Masayuki Amagai
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  9. Akiharu Kubo
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Contributions

S.S., N.O., K.K., B.K., M.A., and A.K. performed the clinical diagnosis and sample collection. S.S., T.S., S.A., K.N., and A.K. performed the genomic analysis. S.S. generated the figures and wrote the manuscript. A.K. led the entire project. All authors reviewed and approved the final version of the manuscript.

Corresponding author

Correspondence to Akiharu Kubo.

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Saito, S., Ono, N., Sasaki, T. et al. Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1. J Hum Genet 67, 675–678 (2022). https://doi.org/10.1038/s10038-022-01068-3

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