DNA strand intertwined with eye, face, heart, and tooth symbols, representing OFCD syndrome.

Decoding OFCD Syndrome: A New Mutation and Hope for Early Diagnosis

Mira Elwood in Health & Wellness December 2025 • 5 min read.

"Groundbreaking research identifies a novel genetic mutation linked to Oculo-Facio-Cardio-Dental syndrome, paving the way for earlier diagnosis and improved patient outcomes."

Oculo-Facio-Cardio-Dental (OFCD) syndrome is a rare, multi-system congenital disorder affecting the eyes, face, heart, and teeth. Imagine a condition so rare that many doctors may never encounter a case in their entire career. First identified in 1980, OFCD syndrome presents a complex puzzle of symptoms, making diagnosis a significant challenge. But recent research is shedding light on the genetic basis of this condition, offering hope for earlier and more accurate diagnoses.

The syndrome's varied effects can include ocular abnormalities like ptosis (drooping eyelids) and microcornea (small cornea), distinctive facial features such as a narrow face and broad nasal tip, cardiac issues like atrial septal defects, and dental problems including radiculomegaly (enlarged tooth roots). The wide range of possible symptoms underscores the need for a deeper understanding of OFCD's underlying causes.

Now, a new study published in Science China Life Sciences has identified a novel genetic mutation associated with OFCD syndrome. This discovery not only expands our understanding of the condition but also offers a potential new target for diagnostic testing and future therapeutic interventions. Let’s delve into the details of this research and explore its implications for individuals and families affected by OFCD syndrome.

Unlocking the Genetic Code: The BCOR Gene and OFCD Syndrome

DNA strand intertwined with eye, face, heart, and tooth symbols, representing OFCD syndrome.

The recent study focused on a young girl presenting with multiple symptoms suggestive of OFCD syndrome. Over a nine-year period, researchers meticulously documented her clinical features, including ocular, facial, cardiac, dental, and limb malformations. Notably, she also presented with papilloma of the choroid plexus, a rare brain tumor, marking the first reported instance of this condition in an OFCD patient.

To pinpoint the genetic cause, the researchers focused on the BCOR gene, a known culprit in OFCD syndrome. They performed mutation analysis, comparing the patient's BCOR gene sequence with those of her parents and a control group of unrelated individuals. This painstaking process led to the identification of a novel deletion mutation, c.1296delT, in exon 4 of the BCOR gene.

What is a deletion mutation? This type of mutation occurs when a nucleotide (the building block of DNA) is missing from the normal sequence.
What does c.1296delT mean? This specific mutation indicates the deletion of a thymine (T) nucleotide at position 1296 in the coding sequence of the BCOR gene.
Why is this significant? The c.1296delT mutation is a frameshift mutation, meaning it alters the reading frame of the genetic code. This leads to the production of a truncated, non-functional protein.

This mutation was absent in both parents and the control group, strongly suggesting its role in the patient's OFCD syndrome. Bioinformatics analysis further confirmed the potential pathogenicity of the mutation, predicting that it would disrupt the normal function of the BCOR protein. This discovery not only reinforces the link between BCOR mutations and OFCD syndrome but also expands the spectrum of known BCOR mutations associated with the condition.

A Brighter Future for OFCD Patients

The identification of this novel BCOR mutation represents a significant step forward in our understanding of OFCD syndrome. It not only adds to the growing body of knowledge about the genetic basis of this condition but also has important implications for diagnosis and potential future therapies. With a more comprehensive understanding of the genetic landscape of OFCD syndrome, clinicians can improve diagnostic accuracy, provide more informed genetic counseling, and potentially develop targeted treatments to address the specific needs of individuals with this rare disorder. This discovery offers a beacon of hope for families affected by OFCD syndrome, paving the way for a brighter future.

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This article is based on research published under:

DOI-LINK: 10.1007/s11427-018-9374-2, Alternate LINK

Title: A Novel Deletion Mutation, C.1296Delt In The Bcor Gene, Is Associated With Oculo-Facio-Cardio-Dental Syndrome

Subject: General Agricultural and Biological Sciences

Journal: Science China Life Sciences

Publisher: Springer Science and Business Media LLC

Authors: Jingshang Zhang, Hongyan Jia, Jinda Wang, Ying Xiong, Jing Li, Xiaoxia Li, Jing Zhao, Xiaohui Zhang, Qisheng You, Guyu Zhu, Frank F. Tsai, Mark Espina, Xiuhua Wan

Published: 2018-09-21

Everything You Need To Know

What exactly is Oculo-Facio-Cardio-Dental syndrome?

Oculo-Facio-Cardio-Dental syndrome is a rare congenital disorder that affects multiple systems in the body, specifically the eyes, face, heart, and teeth. It presents a complex set of symptoms, making diagnosis challenging. The varied effects of OFCD syndrome includes ocular abnormalities, distinctive facial features, cardiac issues, and dental problems. Identifying the genetic cause is paramount for accurate diagnosis and potential future therapies.

Why is the BCOR gene so important in understanding OFCD syndrome?

The BCOR gene is significant because it has been identified as a key gene associated with Oculo-Facio-Cardio-Dental syndrome. Mutations in the BCOR gene can disrupt the normal function of the protein it encodes, leading to the development of OFCD syndrome. The discovery of a novel mutation in the BCOR gene expands our understanding of the genetic basis of this condition and offers a potential new target for diagnostic testing.

What does it mean when we talk about a 'deletion mutation', especially in relation to OFCD?

A deletion mutation, such as the c.1296delT mutation, occurs when one or more nucleotides are missing from the normal DNA sequence. In the context of the BCOR gene and OFCD syndrome, the c.1296delT mutation specifically refers to the deletion of a thymine (T) nucleotide at position 1296 in the coding sequence of the BCOR gene. This type of mutation is significant because it can alter the reading frame of the genetic code, leading to the production of a non-functional protein and contributing to the development of OFCD syndrome.

How can finding a new BCOR mutation actually help in diagnosing OFCD syndrome more accurately?

The identification of a novel BCOR mutation can improve diagnostic accuracy because it expands the spectrum of known genetic variations associated with OFCD syndrome. By identifying specific mutations, clinicians can confirm the diagnosis of OFCD syndrome in affected individuals, even in cases where the clinical presentation is variable or incomplete. This information can also be used to provide more informed genetic counseling to families affected by OFCD syndrome, allowing them to understand the risk of recurrence in future pregnancies. Moreover, identifying the genetic mutation involved can help to predict the severity of the condition.

What role does bioinformatics analysis play in understanding genetic mutations like the one found in the BCOR gene?

Bioinformatics analysis plays a crucial role in understanding the pathogenicity of genetic mutations, such as the c.1296delT mutation identified in the BCOR gene. By using computational tools and databases, researchers can predict how a particular mutation will affect the structure and function of the protein encoded by the gene. In the case of the c.1296delT mutation, bioinformatics analysis can confirm that the mutation disrupts the normal function of the BCOR protein, providing further evidence for its role in the development of OFCD syndrome. This analysis helps to strengthen the link between the genetic mutation and the clinical manifestations of the condition.