A very rare disease of lymphatic malformation 6: five new patients and review of the literatur

Authors : Hamıde Betul GERİK CELEBİ, Murat AKBAS, Tuncay YÜCE, Serdar CEYLANER, Sırrı ÇAM

Pages : 71-75

Doi:10.34087/cbusbed.1224826

View : 87 | Download : 71

Publication Date : 2023-06-30

Article Type : Research Paper

Abstract :Objective: Lymphatic Malformation 6 insert ignore into journalissuearticles values(MIM no:616843); is characterized by generalized edema, bilateral pleural effusions, ascites and non-immune hydrops fetalis. PIEZO1 gene has been associated with the LMPHM6 disorder. Here, we aimed to evaluate five patients from two different families, with various clinical presentations of generalized lymphatic dysplasia. Materials and Methods: Between January 2015 and January 2021, 5 cases with were evaluated with a pre-diagnosis of congenital lymphatic malformation. Whole exome sequencing was performed on the probands, and family segregation analysis was performed by Sanger sequencing. Results: We identified a novel compound heterozygous PIEZO1 gene: NM_001142864.4: c.4030_4032delGAG insert ignore into journalissuearticles values(E1344del);/ c.5455_5456delAA insert ignore into journalissuearticles values(K1819Efs*46); variants in the first family and a novel homozygous PIEZO1 gene: c.5876A>G insert ignore into journalissuearticles values(D1959G); variant in the second family. Conclusion: This study, which presents the clinical features and variations of five patients with long-term follow-up, contributed to the phenotypic and mutation spectrum of Lymphatic Malformation 6. The novel compound heterozygous E1344del/K1819Efs*46 variation leads to a premature stop codon that caused a shorter protein product. It was thought that two compound nonsense variations might be associated with the poor prognosis of family 1. Also, the second novel c.5876A>G insert ignore into journalissuearticles values(D1959G); biallelic homozygous mutation was thought to be associated with impaired PIEZO1 by causing loss of function. This study was the first LMPHM6 report from the Turkish population. Keywords: Neurofibromatosis type 1, Next generation DNA sequencing, NF1 gene, novel variants
Keywords : Lymphatic malformation 6, PIEZO1 gene, novel variants