A novel small deletion in the NHS gene associated with Nance-Horan syndrome

作者：Li, Huajin; Yang, Lizhu; Sun, Zixi; Yuan, Zhisheng; Wu, Shijing; Sui, Ruifang^*

来源：Scientific Reports, 2018, 8(1): 2398.

DOI：10.1038/s41598-018-20787-2

• X-LINKED CATARACT
• CONGENITAL CATARACT
• CHINESE FAMILY
• BILATERAL CATARACT
• SYNDROME PROTEIN
• MUTATION
• IDENTIFICATION
• JUNCTIONS
• ISOFORM
• DISEASE

Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese Nance-Horan syndrome patients are limited. We assessed the clinical manifestations of a Chinese Nance-Horan syndrome pedigree and identified the genetic defect. Genetic analysis showed that 3 affected males carried a novel small deletion in NHS gene, c.263_266delCGTC (p.Ala89TrpfsTer106), and 2 female carriers were heterozygous for the same variant. All 3 affected males presented with typical Nance-Horan syndrome features. One female carrier displayed lens opacities centered on the posterior Y-suture in both eyes, as well as mild dental abnormalities. We recorded the clinical features of a Chinese Nance-Horan syndrome family and broadened the spectrum of mutations in the NHS gene.

• 出版日期2018-2-5
• 单位中国医学科学院北京协和医院; 北京协和医学院