Prenatal ultrasound detection of a DACT1 pathogenic variant overlapping Townes-Brocks Syndrome: A case report with asymptomatic maternal carrier
Year: 2025
Type: article
Study design: Case Report
Abstract: Townes-Brocks syndrome (TBS) is a rare autosomal dominant disorder typically caused by SALL1 mutations.Variants in DACT1 may produce overlapping phenotypes but are rarely described prenatally.We report a 32-year-old primigravida referred at 20th weeks for severe fetal growth restriction.Ultrasound revealed hyperechogenic bowel, abdominal calcifications, saddle-shaped nasal profile, cortical development anomalies, and triphalangeal thumbs.Amniocentesis with trio exome sequencing identified a heterozygous pathogenic DACT1 variant, also present in the asymptomatic mother.The pregnancy was terminated at 23 weeks due to poor prognosis.Postmortem confirmed imperforate anus and limb anomalies.This case highlights the value of detailed fetal imaging combined with advanced molecular testing for rare genetic syndromes, and the complexity of counseling in autosomal dominant disorders with incomplete penetrance.
Source: Perinatal Journal
Authors: Chiara Murolo, Giordana Sica, Luigi Manzo, Letizia Di Meglio, Lavinia Di Meglio, Mariarosaria Motta, Giuliana Orlandi, Laura Letizia Mazzarelli, Gabriele Saccone
Institution: University of Naples Federico II
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4413931175