Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder. Issue 7 (21st March 2022)

• Record Type: Journal Article
• Authors: Michelson, Marina; Lidzbarsky, Gabriel; Nishri, Daniella; Israel‐Elgali, Ifat; Berger, Rachel; Gafner, Michal; Shomron, Noam; Lev, Dorit; Goldberg, Yael
• Is Part Of: American journal of medical genetics. Volume 188:Issue 7(2022)
• Page Start: 1990
• Page End: 1996
• Publication Date: 2022-03-21
• Subjects: 16q24.1–q24.2 microdeletion -- 3′‐UTR FOXC2 -- congenital lymphedema -- developmental delay -- distichiasis; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62730
• Languages: English
• ISSNs: 1552-4825

Abstract

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 .