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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 deficiency without other associated variants.    Conclusion  In a Chinese family with Noonan syndrome, we find that the c.1149 + 1G > T variant in  LZTR1  gene shows a different autosomal dominant inheritance from previous reports, which changes our understanding of its inheritance and improves our understanding of Noonan syndrome.

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