Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome

摘要

TO THE EDITOR: The characteristic phenotype of Nablus mask-like facial syndrome (NMLFS), first described by Teebi [2000], consists of tight, glistening facial skin, blepharophimosis, ocular hypertelorism, abnormal ear architecture, sparse eyebrows, and an upswept frontal hairline. Some patients with NMLFS exhibit other features, including microcephaly, cryptorchidism, cleft palate, friendly demeanor, and a spectrum of neurologic phenotypes ranging from normal to complex motor and speech delays [Shieh et al, 2006; Raas-Rothschild et al., 2009]. The first genetic abnormalities associated with NMLFS were reported by Shieh et al. [2006], who described two affected individuals with chromosomal microdeletions spanning 8q21.3q22.1 detected by array comparative genomic hybridization (aCGH). Two subsequent reports described three additional pro-bands with NMLFS and 8q22.1 deletions [Barber et al., 2008; Raas-Rothschild et al., 2009]; the commonly deleted region in all five patients defined a critical region of 2.8 Mb that presumably contains the causative gene(s) for the disorder (Fig. 1). Here we describe two individuals with the typical NMLFS phenotype who carry novel 8q22.1 microdeletions. One deletion reduces the size of the critical region associated with NMLFS. Informed consent was obtained to publish clinical data and images.