当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

Abstract：

:We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly. The unique constellation of clinical features in patients with NEDD4L mutations might help clinically distinguish them from patients with other genetic mutations including FLNA, which is a well-known causative gene of periventricular nodular heterotopia. Although mutations in the HECT domain of NEDD4L that lead to AKT-mTOR pathway deregulation in forced expression system were reported, our western blot analysis did not show an increased level of AKT-mTOR activity in lymphoblastoid cell lines (LCLs) derived from the patient. In contrast to the forced overexpression system, AKT-mTOR pathway deregulation in LCLs derived from our patient seems to be subtle.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Kato K,Miya F,Hori I,Ieda D,Ohashi K,Negishi Y,Hattori A,Okamoto N,Kato M,Tsunoda T,Yamasaki M,Kanemura Y,Kosaki K,Saitoh S

doi

10.1038/jhg.2017.53

subject

Has Abstract

pub_date

2017-09-01 00:00:00

pages

861-863

issue

9

eissn

1434-5161

issn

1435-232X

pii

jhg201753

journal_volume

62

pub_type

杂志文章

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