TY - JOUR
T1 - Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder
AU - Michelson, Marina
AU - Lidzbarsky, Gabriel
AU - Nishri, Daniella
AU - Israel-Elgali, Ifat
AU - Berger, Rachel
AU - Gafner, Michal
AU - Shomron, Noam
AU - Lev, Dorit
AU - Goldberg, Yael
N1 - Publisher Copyright: © 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2022/7
Y1 - 2022/7
N2 - 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.
AB - 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.
KW - 16q24.1–q24.2 microdeletion
KW - 3′-UTR FOXC2
KW - congenital lymphedema
KW - developmental delay
KW - distichiasis
UR - http://www.scopus.com/inward/record.url?scp=85126799944&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/ajmg.a.62730
DO - https://doi.org/10.1002/ajmg.a.62730
M3 - مقالة
C2 - 35312147
SN - 1552-4825
VL - 188
SP - 1990
EP - 1996
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -