Two unrelated fetuses with ITPR1 missense variants and fetal hydrops |
| |
| Authors: | Sarah Harris Manesha Putra Kelly L Gilmore Neeta L Vora |
| |
| Institution: | 1. Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Atrium Health Wake Forest Baptist, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA;2. Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Colorado School of Medicine, Aurora, Colorado, USA;3. Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA |
| |
| Abstract: | We describe two fetuses from unrelated families with likely pathogenic variants in ITPR1 that presented with nonimmune fetal hydrops. Trio exome sequencing revealed a de novo heterozygous likely pathogenic missense variant c.7636G > A (p.Val2531Met) in ITPR1 (NM_001378452.1) in proband 1 and a de novo heterozygous likely pathogenic missense variant c.34G > A p.Gly12Arg] in proband 2. Variants in ITPR1 have been associated with several genetic conditions, including spinocerebellar ataxia 15, spinocerebellar ataxia 29, and Gillespie syndrome. Our report on two patients details a previously undescribed severe fetal presentation of nonimmune hydrops fetalis associated with missense variants in the ITPR1 gene. |
| |
| Keywords: | |
|
|
