Expanding the Gastrointestinal Phenotype of 10p15.3 Microdeletion Syndrome: Refractory Atypical Gastroparesis in an Adult

10p15.3 microdeletion syndrome is a rare genetic disorder characterized by the loss of <i>ZMYND11</i> and <i>DIP2C</i> genes, resulting in a range of neurodevelopmental delays, dysmorphic features, and gastrointestinal (GI) symptoms. The syndrome has been primarily reported in pediatric patients, and GI manifestations remain poorly studied - particularly in adults - given the limited number of reported cases. To date, only gastroesophageal reflux disease (GERD) and eosinophilic esophagitis (EOE) have been reported in adult patients. We present the first documented case of refractory atypical gastroparesis in a 32-year-old female with known 10p15.3 microdeletion syndrome. This case expands the GI phenotype associated with this rare syndrome and highlights the importance of recognizing motility disorders in patients with neurodevelopmental delays. Further studies are needed to explore the prevalence and underlying mechanisms of atypical gastroparesis in 10p15.3 microdeletion syndrome.

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Journal
Cureus
Published
2025-01-16
DOI
https://doi.org/10.7759/cureus.77555
Primary Topic
Genomic variations and chromosomal abnormalities
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article
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article

Expanding the Gastrointestinal Phenotype of 10p15.3 Microdeletion Syndrome: Refractory Atypical Gastroparesis in an Adult

Shida Haghighat, Vismaya S. Bachu, Jeffrey Li, Bita Shahrvini et al.
Cureus
Genomic variations and chromosomal abnormalities
article

Expanding the Gastrointestinal Phenotype of 10p15.3 Microdeletion Syndrome: Refractory Atypical Gastroparesis in an Adult

Shida Haghighat, Vismaya S. Bachu, Jeffrey Li, Bita Shahrvini, Mark Baniqued, Niharika Mallepally
article en

Abstract

10p15.3 microdeletion syndrome is a rare genetic disorder characterized by the loss of <i>ZMYND11</i> and <i>DIP2C</i> genes, resulting in a range of neurodevelopmental delays, dysmorphic features, and gastrointestinal (GI) symptoms. The syndrome has been primarily reported in pediatric patients, and GI manifestations remain poorly studied - particularly in adults - given the limited number of reported cases. To date, only gastroesophageal reflux disease (GERD) and eosinophilic esophagitis (EOE) have been reported in adult patients. We present the first documented case of refractory atypical gastroparesis in a 32-year-old female with known 10p15.3 microdeletion syndrome. This case expands the GI phenotype associated with this rare syndrome and highlights the importance of recognizing motility disorders in patients with neurodevelopmental delays. Further studies are needed to explore the prevalence and underlying mechanisms of atypical gastroparesis in 10p15.3 microdeletion syndrome.

CureusVol. 17(1)
University of California, Los Angeles (US), Los Angeles Medical Center (US), Olive View-UCLA Medical Center (US)
Good health and well-being
Openalex Percentile: Top 99%
Genomic variations and chromosomal abnormalities
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Expanding the Gastrointestinal Phenotype of 10p15.3 Microdeletion Syndrome: Refractory Atypical Gastroparesis in an Adult — Shida Haghighat, Vismaya S. Bachu, et al. · Cureus (2025) | TGRS Research Map | TGRS