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

Am J Med Genet A. 2022 Jul;188(7):1990-1996. doi: 10.1002/ajmg.a.62730. Epub 2022 Mar 21.

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.

Keywords: 16q24.1-q24.2 microdeletion; 3′-UTR FOXC2; congenital lymphedema; developmental delay; distichiasis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Eyelashes* / abnormalities
  • Forkhead Transcription Factors / genetics
  • Humans
  • Lymphedema* / complications
  • Lymphedema* / diagnosis
  • Lymphedema* / genetics
  • Neurodevelopmental Disorders* / complications
  • Neurodevelopmental Disorders* / diagnosis
  • Neurodevelopmental Disorders* / genetics

Substances

  • Forkhead Transcription Factors

Supplementary concepts

  • Lymphedema distichiasis syndrome