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

Sonoko Saito, Noriko Ono, Takashi Sasaki, Satomi Aoki, Kenjiro Kosaki, Bunya Kuze, Kazuhiko Nakabayashi, Masayuki Amagai, Akiharu Kubo

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
JournalJournal of Human Genetics
DOIs
Publication statusAccepted/In press - 2022

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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