2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Expanding the Chopra-Amiel-Gordon Syndrome Clinical and Molecular Spectrum: Two Novel Deletions Involving <em>ANKRD17</em>

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Chopra-Amiel-Gordon syndrome is a rare genetic condition caused by loss of function of the ANKRD17 gene. This syndrome is characterized by developmental delay, intellectual disability, growth failure, feeding difficulties, epilepsy or abnormal EEG, recurrent infections, and various physical abnormalities. The dysmorphic features associated with this syndrome include a triangular-shaped face, high anterior hairline, deep-set or almond-shaped eyes, thick nasal alae, full cheeks, and a thin upper lip. Behavioral conditions such as autism spectrum disorder and attention deficit hyperactivity disorder may also be present. Most ANKRD17 variants are de novo, but there have been two reports of inherited variants.<br /><br />This research paper reports on two individuals with novel partial deletions of the ANKRD17 gene. Clinical features observed in these individuals were consistent with Chopra-Amiel-Gordon syndrome and included developmental delay, intellectual disability, speech delay, feeding difficulties, seizures, behavioral symptoms, and dysmorphic features. However, there were some non-overlapping features such as motor coordination difficulties and hyperekplexia. Additionally, some facial features observed in one of the individuals differed from those previously described in Chopra-Amiel-Gordon syndrome.<br /><br />These two cases expand the clinical and molecular understanding of Chopra-Amiel-Gordon syndrome. They also highlight the importance of ongoing review and reclassification of reported genetic variants, as the deletions observed in these cases were initially classified as variants of uncertain significance but were reclassified based on updated literature.<br /><br />It is important to continue studying and characterizing the genetic basis and clinical manifestations of Chopra-Amiel-Gordon syndrome in order to improve diagnosis, management, and genetic counseling for affected individuals and their families.<br /><br />Please note that the information provided is a summary of the research paper and should not be used as medical advice.

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Co-Author - Colleen G. Bilancia, PhD; Presenting Author - Adrianne Baxter, MS;

Meta Tag

Brain/Nervous System

Chromosomal Abnormalities

Clinical Applications of Molecular Cytogenetics

Clinical Cytogenetics

Cytogenetics

Genetic Testing

Intellectual disability

Microarray

Molecular Cytogenetics

Co-Author Colleen G. Bilancia, PhD

Presenting Author Adrianne Baxter, MS

Keywords

Chopra-Amiel-Gordon syndrome

ANKRD17 gene

developmental delay

intellectual disability

dysmorphic features

autism spectrum disorder

seizures

genetic variants

diagnosis

genetic counseling