Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder

Marina Michelson*, Gabriel Lidzbarsky, Daniella Nishri, Ifat Israel-Elgali, Rachel Berger, Michal Gafner, Noam Shomron, Dorit Lev, Yael Goldberg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Interstitial deletions of 16q24.1–q24.2 are associated with alveolar capillary dysplasia, congenital renal malformations, neurodevelopmental disorders, and congenital abnormalities. Lymphedema–Distichiasis syndrome (LDS; OMIM # 153400) is a dominant condition caused by heterozygous pathogenic variants in FOXC2. Usually, lymphedema and distichiasis occur in puberty or later on, and affected individuals typically achieve normal developmental milestones. Here, we describe a boy with congenital lymphedema, distichiasis, bilateral hydronephrosis, and global developmental delay, with a de novo microdeletion of 894 kb at 16q24.1–q24.2. This report extends the phenotype of both 16q24.1–q24.2 microdeletion syndrome and of LDS. Interestingly, the deletion involves only the 3′-UTR part of FOXC2.

Original languageEnglish
Pages (from-to)1990-1996
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume188
Issue number7
DOIs
StatePublished - Jul 2022

Funding

FundersFunder number
Sagol School of Neuroscience
Sagol School of Neuroscience, Tel Aviv University

    Keywords

    • 16q24.1–q24.2 microdeletion
    • 3′-UTR FOXC2
    • congenital lymphedema
    • developmental delay
    • distichiasis

    Fingerprint

    Dive into the research topics of 'Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder'. Together they form a unique fingerprint.

    Cite this