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Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay

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KBG syndrome.

Dayna Morel Swols¹, Joseph Foster^2,3, Mustafa Tekin^4,5

¹Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, BRB-336 (M-860), Miami, FL, 33136, USA.

Orphanet Journal of Rare Diseases

|December 21, 2017

Summary

KBG syndrome is a rare genetic disorder characterized by distinctive facial features, skeletal anomalies, and developmental delays. ANKRD11 gene variants, specifically loss-of-function mutations causing haploinsufficiency, are the primary cause.

Keywords:

ANKRD11 KBG syndrome Macrodontia Review Short stature

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Area of Science:

Genetics
Rare Diseases
Clinical Description

Background:

KBG syndrome is a rare genetic disorder.
Characterized by macrodontia of upper central incisors, distinctive craniofacial features, skeletal findings, and developmental delay.
Over 100 patients reported, but likely underdiagnosed due to mild presentations.

Purpose of the Study:

To summarize the clinical description, epidemiology, etiology, and genetic counseling aspects of KBG syndrome.
To provide an overview of the current understanding of KBG syndrome.

Main Methods:

Literature review of reported KBG syndrome cases.
Analysis of clinical features, prevalence data, genetic causes, and inheritance patterns.

Main Results:

KBG syndrome presents with unique craniofacial and skeletal features, developmental delay, and sometimes seizures.
ANKRD11 gene variants, primarily loss-of-function mutations leading to haploinsufficiency, are causative.
The condition follows autosomal dominant inheritance with variable expressivity.

Conclusions:

KBG syndrome is caused by ANKRD11 haploinsufficiency.
Early recognition and genetic testing are crucial for diagnosis and management.
Understanding the genetic basis aids in genetic counseling for affected families.