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De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.

Abstract：

:We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation in histone deacetylase 8 (HDAC8) (c.652G > T, p.Gly218Cys) was confirmed by whole exome sequencing and Sanger sequencing. X-chromosome inactivation analysis on DNA isolated from peripheral blood lymphocytes revealed a completely skewed pattern associated with an inactive maternal allele. Late clinical loss of acquired purposeful hand movements and psychomotor deterioration may be a feature of Rett-related disorder, while distinctive facial features and multiple congenital anomalies are reminiscent of Cornelia de Lange syndrome.

journal_name

Brain Dev

journal_title

Brain & development

authors

Saikusa T,Hara M,Iwama K,Yuge K,Ohba C,Okada JI,Hisano T,Yamashita Y,Okamoto N,Saitsu H,Matsumoto N,Matsuishi T

doi

10.1016/j.braindev.2017.12.013

subject

Has Abstract

pub_date

2018-05-01 00:00:00

pages

406-409

issue

5

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(18)30001-9

journal_volume

40

pub_type

杂志文章

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