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

Zhao，Xiu1; Li，Zhuoguang1; Wang，Li1; Lan，Zhangzhang2; Lin，Feifei3; Zhang，Wenyong2; Su，Zhe1

2021-01-06

10.1186/s12902-020-00666-6

BMC ENDOCRINE DISORDERS   影响因子和分区

1472-6823

["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."]

Noonan syndrome LZTR1 Autosomal dominant Growth hormone deficiency

SCI

英语

其他

Shenzhen Healthcare Research Project[SZLY2018014]

Endocrinology & Metabolism

Endocrinology & Metabolism

WOS:000608120700002

BMC

2-s2.0-85098759483

Web of Science

1.Endocrinology Department,Shenzhen Children’s Hospital,Shenzhen,7019# Yitian Road, Futian District,518038,China
2.School of Medicine,Southern University of Science and Technology,Shenzhen,518055,China
3.Radiology Department,Shenzhen Children’s Hospital,Shenzhen,518038,China

Zhao，Xiu,Li，Zhuoguang,Wang，Li,et al. A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review[J]. BMC ENDOCRINE DISORDERS,2021,21(1).

Zhao，Xiu.,Li，Zhuoguang.,Wang，Li.,Lan，Zhangzhang.,Lin，Feifei.,...&Su，Zhe.(2021).A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.BMC ENDOCRINE DISORDERS,21(1).

Zhao，Xiu,et al."A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review".BMC ENDOCRINE DISORDERS 21.1(2021).