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Related Experiment Video

Updated: May 20, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Warburg Micro syndrome.

Fatma Dursun¹, Ayla Güven, Deborah Morris-Rosendahl

¹Göztepe Educational and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey. fatmadursun54@yahoo.com

Journal of Pediatric Endocrinology & Metabolism : JPEM

|July 10, 2012

Summary

This summary is machine-generated.

Micro syndrome, a rare genetic disorder, is caused by mutations in the RAB3GAP1 gene. This study identifies a novel splice donor mutation in a patient with characteristic features of Micro syndrome.

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Area of Science:

Genetics
Pediatrics
Developmental Biology

Background:

Micro syndrome is a rare autosomal recessive disorder.
It presents with a distinct set of features including intellectual disability, microcephaly, and hypogenitalism.

Observation:

An 11-month-old boy presented with micropenis and cryptorchidism.
Clinical evaluation revealed features consistent with Micro syndrome.

Findings:

Genetic analysis identified a homozygous splice donor mutation (748+1G>A) in exon 8 of the RAB3GAP1 gene.
This mutation is confirmed as the cause of Micro syndrome in the patient.

Implications:

This finding expands the known spectrum of RAB3GAP1 mutations.
It highlights the importance of genetic testing in diagnosing Micro syndrome.
Further research into RAB3GAP1 function may reveal therapeutic targets.