Clinical Study of Family with Multiple Endocrine Neoplasia Type 1 Combined Marfan Syndrome
LU Linli
LIANG Jingtong
YU Xueting
ZHAO Jing
JU Haibing
Abstract：Objective To analyze the clinical characteristics of a patient with multiple endocrine neoplasia type 1(MEN1)and Marfan syndrome(MFS),and to further detect the pathogenic gene in the family,and to provide theoretical basis for clinical diagnosis and genetic counseling.Methods Clinical data of a proband diagnosed with MEN1 combined MFS were collected,and whole-exome sequencing(WES)was performed for 3 family members,Sanger sequencing was used to verify the pathogenic genes.Results High-throughput sequencing revealed a novel heterozygous variant of the MEN1 gene:c.125dup in the proband,and his son,a novel heterozygous variant c.4621C＞T was identified in the fibril-lin-1(FBN1)gene of the proband,and his son.Conclusion This study reports patients with both MEN1 and MFS and their families,which expands the pathogenic gene mutation spectrum of MEN1 and MFS,and provides a theoretical basis for the subsequent genetic counseling and treatment options of the family.
Keywords：Multiple endocrine neoplasia type 1Marfan syndromeWhole-exome sequencingFibrillin-1 gene
Publication Date：2023-12-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 1003-1007,1035 )