A look into Korea's first-and-only documented case of Gabriele-de Vries syndrome (GADEVS, MIM #617557).

A 7-month-old girl was born at 39 gestation weeks with a body weight measurement of 3,140g (-.15 standard deviation [SD]) at birth.

Developmental delay (DD) and subtle facial dysmorphism (listed below) were present:​

  • facial asymmetry
  • micrognathia
  • low-set ears

Parents both Korean, with no family history of developmental delays or abnormalities.

Identification of a likely pathogenic YY1 variant is suspected, expanding the phenotypic spectrum of Gabriele-de Vries syndrome.

Regarding prevalence, there have only been ten cases documented in medical literature of the syndrome.

Initial Testing

​Patient was brought to hospital specializing in DD, with the following results:​

  • Chromosome (karyotype): 46, XX
  • CMA: Normal
  • Tandem MS: Normal
  • Abdominal US, echocardiogram: Normal
  • Bayley-III assessment: Mild degree of global developmental delay, especially in gross motor function.

WES Testing

​As a next generation sequencing (NGS) technique, whole exome sequencing (WES) is able to identify genomic variants within undiagnosed syndromic cases in an efficient, cost-effective way.

A WES test was requested by the patient’s family.

The entirety of the patient’s proband WES test was performed at 3billion, Inc.

WES Details
  • 98.8% of base positions covered at >=20X
  • Utilized xGen Exome Research Panel v2 (Integrated DNA Technologies)
  • Aforementioned abnormalities (DD, facial dysmorphism) were employed as filtering indices​
WES Result

​The WES test successfully identified a novel heterozygous missense variant in the YY1 gene, further validated by Sanger sequencing.​

  • Gene: YY1​
  • Position: 14-100743912-A-G​
  • HGVS nomenclature: NM_003403.4: c.1220C>T (p.His407Arg)​
  • Allelic origin: de novo

Diagnosis and Current Status

​The patient was successfully diagnosed with Gabriele-de Vries syndrome in infancy.

Due to diagnosis during infancy, access to intensive rehabilitation therapy is eased. Regarding the patient’s cognitive function, this allows it to not worsen further.

This is the first report of Gabriele-de Vries syndrome within the South Korean population, which could expand the clinical and molecular spectra of the syndrome.

The patient currently attends and undergoes rehabilitation treatments twice a week focused on occupational therapy and neurodevelopment, as well as daily living tasks.

Disease Info and Doctor's Insight

Learn more about Gabriele-de Vries Syndrome (Rare Disease Series #23), such as its prevalence, age of onset, diagnosis method, and treatment, along with insight from the patient’s doctor.