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Background  Pierre-Robin sequence (PRS) is defined by micro- and/or retrognathia, glossoptosis and cleft soft palate, either caused by deformational defect or part of a malformation syndrome. Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by mutations in the  NF2  gene on chromosome 22q12.2. NF2 is characterized by bilateral vestibular schwannomas, spinal cord schwannomas, meningiomas and ependymomas, and juvenile cataracts. To date, NF2 and PRS have not been described together in the same patient.    Case presentation  We report a female with PRS (micrognathia, cleft palate), microcephaly, ocular hypertelorism, mental retardation and bilateral hearing loss, who at age 15 was also diagnosed with severe NF2 (bilateral cerebellopontine schwannomas and multiple extramedullary/intradural spine tumors). This is the first published report of an individual with both diagnosed PRS and NF2. High resolution karyotype revealed 46, XX, del(22)(q12.1q12.3), FISH confirmed a deletion encompassing  NF2 , and chromosomal microarray identified a 3,693 kb deletion encompassing multiple genes including  NF2  and  MN1  (meningioma 1).  Five additional patients with craniofacial dysmorphism and deletion in chromosome 22-adjacent-to or containing  NF2  were identified in PubMed and the DECIPHER clinical chromosomal database. Their shared chromosomal deletion encompassed  MN1 ,  PITPNB  and  TTC28 .  MN1 , initially cloned from a patient with meningioma, is an oncogene in murine hematopoiesis and participates as a fusion gene ( TEL / MN1 ) in human myeloid leukemias. Interestingly,  Mn1 -haploinsufficient mice have abnormal skull development and secondary cleft palate. Additionally,  Mn1  regulates maturation and function of calvarial osteoblasts and is an upstream regulator of  Tbx22 , a gene associated with murine and human cleft palate. This suggests that deletion of  MN1  in the six patients we describe may be causally linked to their cleft palates and/or craniofacial abnormalities.    Conclusions  Thus, our report describes a  NF2 -adjacent chromosome 22q12.2 deletion syndrome and is the first to report association of  MN1  deletion with abnormal craniofacial development and/or cleft palate in humans.

bmc medical genetics

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature