What is Gabriele-de Vries Syndrome?
Gabriele-de Vries Syndrome (GADEVS) is a neurodevelopmental disorder caused by a heterozygous variant of the YY1 gene, which is an autosomal dominant manner.
This syndrome is characterized by global developmental delay, facial dysmorphism, multiple congenital anomalies, and other neurological abnormalities.
Source - OMIM - Online Mendelian Inheritance in Man
Prevalence and Onset
GADEVS is extremely rare, with a prevalence of less than 1 in 1,000,000.
Primarily antenatal or neonatal, the onset of GADEVS happens very early a patient's life.
The symptoms associated with GADEVS include:
- Developmental delay and intellectual disability
- Dysmorphic facial features
- Growth retardation
- Neurological abnormalities including abnormal neuroimaging
- Behavioral problems
- Multiple congenital anomalies: Eye, heart, kidney, and skeletal system
Whole exome sequencing is the best diagnostic approach to reach a diagnosis of GADEVS.
One such case describes a 9-month-old female, with various symptoms, who ended their diagnostic odyssey in a similar fashion.
GADEVS is inherited in an autosomal dominant manner, per NCBI.
Dependent upon both when the patient is diagnosed and severity of clinical manifestation, various types of rehabilitation therapy may be applied.
In Korea's first case of GADEVS, the patient was diagnosed during infancy and is currently undergoing extensive rehabilitation therapy.
Below is insight from Jinsup Kim, M.D., Clinical Associate Professor of Hanyang University College of Medicine, who is also situated in Korea:
Why was a genetic disease suspected initially?
It was observed that the patient had developmental delay and facial dysmorphism.
Were there any candidates for possible diseases prior to the WES test?
No diseases fit, so there were no candidates. This is a primary reason why I chose to utilize WES testing.
Prior to WES testing, what techniques were used in an attempt to diagnose the patient?
Simultaneous execution of microarray.
Following WES testing, could you provide insight as to what was confirmed?
De novo via parental examination was confirmed. Highly likely based on symptoms.
Regarding the patient's follow-up, how are they currently doing?
The patient is currently undergoing neurological therapy and rehabilitation, as well as hearing tests, regularly.
Although there have been many advances in the area of rare disease diagnosis, there are still many difficulties. What aspects of rare disease diagnosis can be improved?
Efforts to find the basis for judgements about the revealed mutations. Additionally, continuous follow-up and feedback of and from undiagnosed patients are [should be] required.