A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation.
Moe KusakawaTakeshi SatoAi HosodaEriko ArakiYohei MatsuzakiYukio YamashitaJun IshiharaYoshinori InagakiNoboru UchidaTomohiro IshiiTomonobu HasegawaPublished in: Human genome variation (2019)
HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the GATA3 gene. A vascular ring has not been reported in patients with GATA3-associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the GATA3 gene.