Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia

Aasem Abu Shtaya; Rivka Sukenik-Halevy; Lily Bazak; Gabriel Arie Lidzbarsky; Claudia Gonzaga-Jauregui; Irina Lagovsky; Yael Goldberg; Lina Basel-Salmon

doi:10.1111/cge.14344

Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia

Clin Genet. 2023 Aug;104(2):275-276. doi: 10.1111/cge.14344. Epub 2023 Apr 24.

Authors

Aasem Abu Shtaya¹, Rivka Sukenik-Halevy^{2

3}, Lily Bazak¹, Gabriel Arie Lidzbarsky¹, Claudia Gonzaga-Jauregui⁴, Irina Lagovsky⁵, Yael Goldberg^{1

2}, Lina Basel-Salmon^{1

2

5

6}

Affiliations

¹ Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.
² Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
³ Genetics Institute, Meir Medical Center, Kfar Saba, Israel.
⁴ Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, New York, USA.
⁵ Felsenstein Medical Research Center, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.
⁶ Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

PMID: 37096293
DOI: 10.1111/cge.14344

Abstract

A short report of two male siblings born with cutis aplasia, lymphedema and intestinal lymphangiectasia, one found to carry bi-allelic variants in the TIE1 gene known to be associated with congenital lymphedema.

Publication types

Letter

MeSH terms

Alleles
Ectodermal Dysplasia* / genetics
Humans
Lymphangiectasis, Intestinal* / complications
Lymphangiectasis, Intestinal* / diagnosis
Lymphangiectasis, Intestinal* / genetics
Lymphedema* / genetics
Male
Siblings