Department of Dermatology, Keio University School of Medicine, Tokyo, 160-8582, Japan.
Center for Supercentenarian Medical Research, Keio University School of Medicine, Tokyo, 160-8582, Japan.
J Hum Genet. 2022 Nov;67(11):675-678. doi: 10.1038/s10038-022-01068-3. Epub 2022 Aug 15.
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.
Pierre-Robin 序列（PRS）是一种罕见的先天性缺陷，表现为小颌畸形、舌下垂和气道阻塞，伴有不同程度的腭裂。重叠的 PRS 与神经纤维瘤病 2 型（NF2）是一种由染色体 22q12 微缺失引起的综合征，包括 NF2。我们描述了一例严重早发性 NF2 重叠 PRS 的患者，表现为小颌畸形、舌下垂和轻度腭裂。我们在患者中检测到 MN1 和 NF2 包括在内的染色体 22q12 微缺失。先前重叠的 PRS 和 NF2 由染色体 22q12 微缺失引起的病例表现出严重的 NF2 表型，腭裂的严重程度不同，微缺失的大小也不同。基因型-表型相关性以及微缺失大小和断点的比较表明，MN1 和 NF2 远端的一些修饰基因可能与腭裂的严重程度有关。
