Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Am J Med Genet A. 2012 Sep;158A(9):2091-9. doi: 10.1002/ajmg.a.35446. Epub 2012 Jul 20.
Nablus mask-like facial syndrome (NMLFS) has many distinctive phenotypic features, particularly tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. Over the last few years, several individuals with NMLFS have been reported to have a microdeletion of 8q21.3q22.1, demonstrated by microarray analysis. The minimal overlapping region is 93.98-96.22 Mb (hg19). Here we present clinical and microarray data from five singletons and two mother-child pairs who have heterozygous deletions significantly overlapping the region associated with NMLFS. Notably, while one mother and child were said to have mild tightening of facial skin, none of these individuals exhibited reduced facial expression or the classical facial phenotype of NMLFS. These findings indicate that deletion of the 8q21.3q22.1 region is necessary but not sufficient for development of the NMLFS. We discuss possible genetic mechanisms underlying the complex pattern of inheritance for this condition.
纳布卢斯面具样面综合征（NMLFS）具有许多独特的表型特征，特别是皮肤紧绷、缺乏表情、睑裂狭小、内眦赘皮、鼻尖肥大、外耳结构异常、额发上翘和眉毛稀疏。在过去的几年中，已经有几例 NMLFS 患者通过微阵列分析被报道存在 8q21.3q22.1 微缺失。最小重叠区域为 93.98-96.22Mb（hg19）。在这里，我们展示了五个单例和两个母婴对的临床和微阵列数据，这些患者的杂合性缺失显著重叠与 NMLFS 相关的区域。值得注意的是，虽然一对母子的面部皮肤据称有轻微紧绷，但这些个体均未表现出表情减少或 NMLFS 的典型面部表型。这些发现表明 8q21.3q22.1 区域的缺失是 NMLFS 发展所必需的，但不是充分的。我们讨论了这种情况复杂遗传模式的潜在遗传机制。
