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KBG Syndrome in 16 Indian Individuals.

Shruti Bajaj¹, Sheela Nampoothiri², Roshni Chugh¹

¹The Purple Gene Clinic, Mumbai, India.

American Journal of Medical Genetics. Part A

|October 15, 2024

Summary

This summary is machine-generated.

This study details the clinical and genetic features of KBG syndrome (KBGS) in 16 Indian individuals. ANKRD11 gene variants were identified, confirming learning disabilities and skeletal issues as key characteristics.

Keywords:

artificial intelligence chromatinopathies neurodevelopmental disorder rare disease

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Area of Science:

Genetics
Clinical Medicine
Rare Diseases

Background:

KBG syndrome (KBGS) is a rare genetic disorder.
ANKRD11 gene mutations are the primary cause of KBGS.
Understanding KBGS clinical and genetic profiles is crucial for diagnosis and management.

Purpose of the Study:

To describe the clinical and genetic characteristics of KBG syndrome in Indian patients.
To identify variants in the ANKRD11 gene associated with KBGS.
To evaluate the utility of facial gestalt analysis in KBGS diagnosis.

Main Methods:

Retrospective analysis of clinical data from 16 individuals with KBGS from 13 Indian families.
Genetic analysis to identify pathogenic/likely pathogenic variants in the ANKRD11 gene.
Facial gestalt analysis using Face2Gene software.

Main Results:

Learning and intellectual disability (93%), skeletal abnormalities (93%), and postnatal short stature (87%) were common.
12 single nucleotide variants (SNVs) and one copy number variant in ANKRD11 were identified.
Face2Gene showed high concordance in predicting KBGS, with characteristic facial features noted in 87% of patients.

Conclusions:

The study expands the understanding of KBGS clinical and genetic spectrum in an Indian population.
ANKRD11 variants, particularly those clustered around exon 9, are confirmed as causative.
Facial gestalt analysis is a valuable tool for KBGS diagnosis.