A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia

Shiho Nagayama; Hironori Takahashi; Fuyuki Hasegawa; Asuka Hori; Sho Kizami; Rieko Furukawa; Kenji Horie; Manabu Ogoyama; Kenichiro Hata; Hiroyuki Fujiwara

doi:10.1111/cga.12569

A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia

Congenit Anom (Kyoto). 2024 Apr 18. doi: 10.1111/cga.12569. Online ahead of print.

Authors

Affiliations

¹ Department of Obstetrics and Gynecology, Jichi Medical University, Shimotsuke, Japan.
² Department of Clinical Genetics, National Center for Child Health and Development, Tokyo, Japan.
³ Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
⁴ Department of Radiology, Jichi Medical University, Shimotsuke, Japan.
⁵ Department of Molecular Biology, Gunma University, Maebashi, Japan.

PMID: 38637985
DOI: 10.1111/cga.12569

Abstract

A 27-year-old multiparous woman conceived her fetus naturally. Early second-trimester ultrasound showed short extremities with systemic subcutaneous edema. The pregnancy was artificially terminated at 19 weeks of gestation because of the abnormalities based on the parents' wishes. The parents desired whole-exome sequencing to detect a causative gene using the umbilical cord and the parents' saliva. Compound heterozygous variants (NC_000003.11(NM_052989.3):c.230 T > G/NC_000003.11(NM_052985.4):c.1178A > T) were identified. We described a fetus with a novel compound heterozygous variant in IFT122. The phenotype of this case was severer than of other types of cranioectodermal dysplasia.

Keywords: IFT122; cranioectodermal dysplasia; hydrops fetalis; short rib polydactyly syndrome; skeletal dysplasia.

Grants and funding

16ek0109166h0002/The Initiative on Rare and Undiagnosed Diseases in Pediatrics (IRUD-P) project from the Japan Agency for Medical Research and Development (AMED)