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

• Published in: Congenital anomalies 2024-07, Vol.64 (4), p.177-181
• Main Authors: Nagayama, Shiho, Takahashi, Hironori, Hasegawa, Fuyuki, Hori, Asuka, Kizami, Sho, Furukawa, Rieko, Horie, Kenji, Ogoyama, Manabu, Hata, Kenichiro, Fujiwara, Hiroyuki
• Format: Article
• Language: English
• Subjects: Abnormalities; Adult; Bone and Bones - abnormalities; cranioectodermal dysplasia; Craniosynostoses; Dysplasia; Ectodermal Dysplasia - diagnosis; Ectodermal Dysplasia - genetics; Ectodermal Dysplasia - pathology; Edema; Exome Sequencing; Extremities; Female; Fetuses; Heterozygote; Humans; hydrops fetalis; IFT122; Mutation; Phenotype; Phenotypes; Pregnancy; Saliva; short rib polydactyly syndrome; skeletal dysplasia; Ultrasonography, Prenatal; Umbilical cord; Whole genome sequencing
• ISSN: 0914-3505; 1741-4520; 1741-4520
• DOI: 10.1111/cga.12569

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.