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New Genitourinary Findings in CTNND1 Blepharocheilodontic Syndrome
Lily Loughman1, Naeem Samnakay2,3,4, Geoffrey C Lam2
1Genetic Health Western Australia, Subiaco, Australia.
American Journal of Medical Genetics. Part A
|March 3, 2025
Summary
Blepharocheilodontic syndrome (BCD syndrome), a genetic disorder, can present with new urogenital anomalies. This case study identifies a CTNND1 variant and suggests expanded screening for BCD syndrome patients.
Area of Science:
- Genetics
- Developmental Biology
- Medical Genetics
Background:
- Blepharocheilodontic syndrome (BCD syndrome) is an autosomal dominant disorder.
- It is characterized by cleft lip/palate, eyelid abnormalities, and ectodermal defects (hair, teeth).
Observation:
- A 3-year-old female presented with typical BCD syndrome features.
- She also exhibited a duplex kidney, ureterocele, and bicornuate uterus, which are not previously associated with BCD syndrome.
Findings:
- Whole exome sequencing revealed a de novo heterozygous pathogenic splice site variant in CTNND1.
- This genetic finding confirmed the diagnosis of CTNND1-related BCD syndrome.
Implications:
- The observed urogenital anomalies suggest an expanded phenotype for BCD syndrome.
- This case underscores the importance of investigating the full spectrum of anomalies in BCD syndrome.
- Recommends ultrasound evaluation of the urinary tract in newly diagnosed individuals.
