Next Article in Journal
Collagen Type IV Variants and Kidney Cysts: Decoding the COL4A Puzzle
Previous Article in Journal
Variant Ataxia–Telangiectasia Presenting as Tremor–Dystonia Syndrome in a Bulgarian Religious Minority
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Genes
Volume 16
Issue 6
10.3390/genes16060643
genes-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Review

Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review

by
Gianluca Campobasso
1,†,
Ludovica Mercuri
2,†,
Francesca De Razza
3,
Antonella Cosentino
4,
Marta Mele
4,
Antonella Monittola
4,
Carmen Congedo
3,
Maria Chiara Calò
3,
Caterina Scalcione
3,
Alessandro D’Amuri
2,5,
Salvatore Mauro
3 and
Serena Lattante
2,*
1
Fetal Medicine Service, Department of Obstetrics and Gynecology, Vito Fazzi Hospital, 73100 Lecce, Italy
2
Department of Experimental Medicine, University of Salento, 73100 Lecce, Italy
3
Medical Genetics Unit, Presidio Ospedaliero “Vito Fazzi”, 73100 Lecce, Italy
4
Department of Obstetrics and Gynecology, University of Bari, 70121 Bari, Italy
5
Anatomic Pathology Unit, Presidio Ospedaliero “Vito Fazzi”, 73100 Lecce, Italy
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Genes 2025, 16(6), 643; https://doi.org/10.3390/genes16060643
Submission received: 7 May 2025 / Revised: 22 May 2025 / Accepted: 26 May 2025 / Published: 27 May 2025
(This article belongs to the Section Human Genomics and Genetic Diseases)
Versions Notes

Abstract

Meckel–Gruber syndrome (MKS) is a rare autosomal recessive lethal ciliopathy, characterized by occipital encephalocele, cystic kidneys, and postaxial polydactyly, caused by mutations in different genes. Its significant genetic heterogeneity along with its clinical overlap with other ciliopathies makes early diagnosis essential for clinical management, accurate genetic counseling, and informing future reproductive decisions. Objectives: This study aims to describe a prenatally diagnosed case carrying a homozygous B9D1 variant and to examine the current literature on all variants reported in this gene associated with MKS. Methods: We comprehensively review the current literature on pathogenic B9D1 variants implicated in this syndrome. Additionally, we describe a case, presenting multiple congenital anomalies suggestive of MKS, genetically diagnosed by clinical exome sequencing on chorionic villi. Results: Occipital encephalocele and polycystic kidneys were revealed via ultrasound, thus suggesting MKS. Genetic testing identified the homozygous c.151T>C (p.Ser51Pro) variant in the B9D1 gene, inherited from healthy parents. Conclusions: This case supports the pathogenicity of the homozygous B9D1 c.151T>C variant and underscores the importance of timely prenatal assessment and targeted genetic testing for the detection of MKS risk in heterozygous subjects, enabling appropriate pregnancy management and informed reproductive choices.
Keywords: MKS; Meckel–Gruber syndrome; B9D1; encephalocele; ciliopathy MKS; Meckel–Gruber syndrome; B9D1; encephalocele; ciliopathy

Share and Cite

MDPI and ACS Style

Campobasso, G.; Mercuri, L.; De Razza, F.; Cosentino, A.; Mele, M.; Monittola, A.; Congedo, C.; Calò, M.C.; Scalcione, C.; D’Amuri, A.; et al. Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review. Genes 2025, 16, 643. https://doi.org/10.3390/genes16060643

AMA Style

Campobasso G, Mercuri L, De Razza F, Cosentino A, Mele M, Monittola A, Congedo C, Calò MC, Scalcione C, D’Amuri A, et al. Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review. Genes. 2025; 16(6):643. https://doi.org/10.3390/genes16060643

Chicago/Turabian Style

Campobasso, Gianluca, Ludovica Mercuri, Francesca De Razza, Antonella Cosentino, Marta Mele, Antonella Monittola, Carmen Congedo, Maria Chiara Calò, Caterina Scalcione, Alessandro D’Amuri, and et al. 2025. "Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review" Genes 16, no. 6: 643. https://doi.org/10.3390/genes16060643

APA Style

Campobasso, G., Mercuri, L., De Razza, F., Cosentino, A., Mele, M., Monittola, A., Congedo, C., Calò, M. C., Scalcione, C., D’Amuri, A., Mauro, S., & Lattante, S. (2025). Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review. Genes, 16(6), 643. https://doi.org/10.3390/genes16060643

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop