A very rare disease of lymphatic malformation 6: five new patients and review of the literatur-Reference-Cited by-同舟云学术

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

Published:2023-06-30 Issue:2 Volume:10 Page:71-75
ISSN:2147-9607
Container-title:Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi
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Author:

GERİK CELEBİ Hamıde Betul¹^ORCID,AKBAS Murat²^ORCID,YÜCE Tuncay³^ORCID,CEYLANER Serdar⁴^ORCID,ÇAM Sırrı⁵^ORCID

Affiliation:

1. Balıkesir Atatürk Şehir Hastanesi

2. İzmir Özel Can Hastanesi

3. Liv Hospital

4. Intergen Genetics and Rare Diseases Diagnosis Research& Application Center

5. MANİSA CELÂL BAYAR ÜNİVERSİTESİ, TIP FAKÜLTESİ

Abstract

Objective: Lymphatic Malformation 6 (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 (E1344del)/ c.5455_5456delAA (K1819Efs*46) variants in the first family and a novel homozygous PIEZO1 gene: c.5876A>G (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 (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

Publisher

Celal Bayar Universitesi Saglık Bilimleri Enstitusu Dergisi

Subject

Industrial and Manufacturing Engineering,Materials Science (miscellaneous),Business and International Management

Reference31 articles.

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