Commentary on ‘Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance–Horan syndrome’

The article entitled ‘Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance–Horan syndrome’ is an interesting article.¹ Nance–Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies, and facial dysmorphism. The NHS protein is a putative nuclear protein involved in the regulation of the development of eye, tooth, brain, face, and skull. Some patients show mental retardation. NHS may be classified as one of the X-linked mental retardation (XLMR) syndromes. Differential diagnosis of NHS is important in patients with congenital cataract and other anomalies. Mostly, protein truncation mutations in the NHS gene have been identified in patients with NHS.

The authors identified a microdeletion of ∼0.92 Mb at Xp22.13 detected by array-based comparative genomic hybridization (array CGH) in two brothers presenting with congenital cataract, dental anomalies, facial dysmorphisms, and MR. The deleted region included the REPS2, NHS, SCML1, and RAI2 genes. Their carrier mother showed only mild cataract. These findings further indicate that genomic rearrangement involving the NHS gene is an important genetic etiology underlying NHS.

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