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

Research output: Contribution to journalArticlepeer-review

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
JournalAmerican Journal of Medical Genetics, Part A
DOIs
StateAccepted/In press - 2022

Keywords

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

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