A Rare Case of a Child with X-linked Opitz G/BBB Syndrome Caused by a Novel Partial Microduplication in the MID1 gene: Implications for Genetic Diagnosis.
Authors: Dr Mishal Alsulami , Dr Hatem Elghezal , Dr Saeed Alghamdi , Dr Nasser Saad Almobadel , Dr Fadia Almohaisen , Fatima Alshahrani , Abdulmalik Alenazi , Ines ben Abdallah , Hamoud Alanazi , Bayoumi A. Emam , Dr Elham Saeed Bagrayn , Dr Amal Mohammed Alhashem
Abstract
Background: Opitz G/BBB syndrome (XLOS) is a rare X-linked recessive disorder caused by mutations in MID1 gene, characterized by midline congenital anomalies. Here we report a novel MID1 duplication associated with unique phenotypic features.
Case Presentation: A 2-year-old Saudi male had prenatally oligohydramnios and was born with rectovesical fistula, hypospadias, anorectal malformation, and congenital heart defects (ASD/PDA). Family history revealed an X-linked inheritance pattern (multiple affected maternal male relatives). He also exhibited developmental delay and growth parameters below the 3rd percentile
Conclusion: This is the first report of a MID1 duplication involving exons 1–3, associated with rectovesical fistula and oligohydramnios, broadening the phenotypic spectrum of XLOS. We recommend that MID1 testing be considered in males with atypical midline defects (including urogenital anomalies) and prenatal testing should be offered for at-risk pregnancies.
Keywords: X-linked Opitz G/BBB Syndrome, Novel Microduplication, MID1 Gene
Pubmed Style
Dr Mishal Alsulami, Dr Hatem Elghezal, Dr Saeed Alghamdi, Dr Nasser Saad Almobadel, Dr Fadia Almohaisen, Fatima Alshahrani, Abdulmalik Alenazi, Ines ben Abdallah, Hamoud Alanazi, Bayoumi A. Emam, Dr Elham Saeed Bagrayn, Dr Amal Mohammed Alhashem. A Rare Case of a Child with X-linked Opitz G/BBB Syndrome Caused by a Novel Partial Microduplication in the MID1 gene: Implications for Genetic Diagnosis.. JBC Genetics. 2025; 30 (December 2025): 115-121. doi:10.24911/JBCGenetics.11-2381
Publication History
Received: October 03, 2025
Revised: December 21, 2025
Accepted: December 26, 2025
Published: December 30, 2025
Authors
Dr Mishal Alsulami
Laboratory Consultant in Cytogenetics and Molecular Genetics laboratory at Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Dr Hatem Elghezal
Medical Consultant in Cytogenetic and Molecular Genetic Laboratory, Prince Sultan Medical Military City, Riyadh, Saudi Arabia
Dr Saeed Alghamdi
Head of Cytogenetic and Molecular Genetic Laboratory, Prince Sultan Medical Military City, Riyadh, Saudi Arabia
Dr Nasser Saad Almobadel
Cytogenetic and Molecular Genetic Laboratory, Prince Sultan Medical Military City, Riyadh, Saudi Arabia
Dr Fadia Almohaisen
Cytogenetic and Molecular Genetic Laboratory, Prince Sultan Medical Military City, Riyadh, Saudi Arabia
Fatima Alshahrani
Cytogenetic and Molecular Genetic Laboratory, Prince Sultan Medical Military City, Riyadh, Saudi Arabia
Abdulmalik Alenazi
Cytogenetic and Molecular Genetic Laboratory, Prince Sultan Medical Military City, Riyadh, Saudi Arabia
Ines ben Abdallah
Cytogenetics Laboratory, King Faisal Specialist Hospital and Research Center (KFSH&RC), Riyadh, Saudi Arabia
Hamoud Alanazi
Cepheid Danaher Dx, Riyadh, Saudi Arabia
Bayoumi A. Emam
Sharurah Armed Forces Hospital, Saudi Arabia
Dr Elham Saeed Bagrayn
Pediatrician, senior registrar genetic and metabolic division,Prince Sultan Medical Military City, Riyadh, Saudi Arabia
Dr Amal Mohammed Alhashem
Medical consultant, King Fahd Specialist Hospital, Dammam, Saudi Arabia