Istituto G. Gaslini, Genova, Italy.
Università degli Studi di Genova, Italy.
Birth Defects Res. 2017 Jul 3;109(11):866-868. doi: 10.1002/bdr2.1032. Epub 2017 May 2.
Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been reported to have congenital cardiac defects. Nance-Horan syndrome is caused by mutations in the NHS gene that is highly expressed in the midbrain, retina, lens, tooth, and is conserved across vertebrate species. Although most pathogenic mutations are nonsense mutations, a few genomic rearrangements involving NHS locus have been reported, suggesting a possible pathogenic role of the flanking genes.
Here, we report a microdeletion of 170,6 Kb at Xp22.13 (17.733.948-17.904.576) (GRCh37/hg19), detected by array-based comparative genomic hybridization in an Italian boy with NHS syndrome.
The microdeletion harbors the NHS, SCLML1, and RAI2 genes and results in a phenotype consistent with NSH syndrome and developmental delay.
We compare our case with the previous Xp22.13 microdeletions and discuss the possible pathogenetic role of the flanking genes. Birth Defects Research 109:866-868, 2017. © 2017 Wiley Periodicals, Inc.
Nance-Horan 综合征（NHS）是一种罕见的 X 连锁发育障碍，其特征为先天性白内障、牙齿异常和面部畸形。值得注意的是，高达 30%的 NHS 患者存在智力障碍，少数患者曾报道存在先天性心脏缺陷。Nance-Horan 综合征是由 NHS 基因的突变引起的，该基因在中脑中高度表达，在视网膜、晶状体和牙齿中也有表达，并且在脊椎动物中具有保守性。尽管大多数致病性突变是无义突变，但也有一些涉及 NHS 基因座的基因组重排被报道，这提示侧翼基因可能具有潜在的致病性。
在这里，我们报道了一名意大利男孩 NHS 综合征的 Xp22.13 微缺失（17.733.948-17.904.576）（GRCh37/hg19），该缺失是通过基于阵列的比较基因组杂交检测到的。
微缺失包含 NHS、SCLML1 和 RAI2 基因，导致与 NHS 综合征和发育迟缓一致的表型。
我们将本病例与之前的 Xp22.13 微缺失进行了比较，并讨论了侧翼基因的可能致病作用。出生缺陷研究 109:866-868, 2017. © 2017 Wiley Periodicals, Inc.
