Xiayuan Xu, Chengcheng Gao, Fenglei Ye, Aohui Peng, Jianbo Xu, Keqin Jin, Jun Zhang, Yun Ye, Yanfen Yang, Xuan Zhang, Shuangshuang Shen, Fan Jin
NKAP mutations are associated with Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder (MRXSHD, MIM: #301039). Here, we elucidate the potential prenatal manifestation of NKAP mutation-associated disorder for the first time, alongside revealing the relationship between NKAP mutations and congenital heart defect (CHD) in the Chinese population. An NKAP mutation (NM_024528.4: c.988C>T, p.Arg330Cys) was identified in two foetuses presenting with CHD. Subsequent mechanistic exploration revealed a marked downregulation of NKAP transcription within HEK293T cells transfected with NKAP p...
April 2024: Journal of Cellular and Molecular Medicine