A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.

ABSTRACT:

Background

Noonan syndrome is an inherited disease involving multiple systems. More than 15 related genes have been discovered, among which LZTR1 was discovered recently. However, the pathogenesis and inheritance pattern of LZTR1 in Noonan syndrome have not yet been elucidated.

Case presentation

We herein describe a family with LZTR1-related Noonan syndrome. In our study, the proband, sister, mother, maternal aunt and grandmother and female cousin showed the typical or atypical features of Noonan syndrome. Only 3 patients underwent the whole-exome sequencing analysis and results showed that the proband as well as her sister inherited the same heterozygous LZTR1 variant (c.1149 + 1G > T) from their affected mother. Moreover, the proband accompanied by growth hormone deficienc

SUBMITTER: Zhao X 

PROVIDER: S-EPMC7788825 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature