KBG syndrome (OMIM #148050) is an autosomal dominant neurodevelopmental disorder characterized by the presence of macrodontia of the permanent central upper incisors, characteristic facial features, delay in development, intellectual disability, short stature, and various skeletal abnormalities. Over 200 affected individuals have been described worldwide, though underdiagnosis is suspected because the characteristic features are variably present and affected individuals can have a mild phenotype. This case series provides a summary of the clinical and molecular characteristics of 10 Chinese KBG syndrome patients recruited from a single center. To our knowledge, this is the first case series for Chinese KBG patients. This case series aimed at exploring potential ethnicity-related variability in KBG syndrome.
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Child with KBG syndrome.
BMJ Case Rep
December 2024
Pediatric Neurology, Aster CMI Hospital, Bengaluru, Karnataka, India
Article Synopsis
- A male child presented with developmental delay and distinct facial features including a uniquely shaped skull and specific ear and eyebrow characteristics.
- The mobile app Face2Gene was utilized to analyze the child’s facial photos, indicating a strong possibility of KBG syndrome.
- Confirmation of the diagnosis was achieved through exome sequencing, which identified a specific mutation linked to KBG syndrome.
KBG Syndrome in 16 Indian Individuals.
Am J Med Genet A
October 2024
Suma Genomics Private Limited, Manipal, India.
Article Synopsis
- - The study analyzed the clinical and genetic features of 16 individuals with KBG syndrome (KBGS) from 13 Indian families, focusing on likely pathogenic variants in the ANKRD11 gene.
- - Key clinical traits observed included a high prevalence of learning/intellectual disabilities (93%), skeletal abnormalities (93%), and distinctive facial features (87%).
- - Genetic analysis revealed 12 single nucleotide variants (SNVs) in the ANKRD11 gene, with many clustering around exon 9, and the Face2Gene application showed high accuracy in suggesting differential diagnoses for KBGS.
Assessment of Adaptive Functioning and the Impact of Seizures in KBG Syndrome.
Am J Med Genet A
October 2024
Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
This study aimed to examine the adaptive functioning status and the impact of epileptic seizures on neurocognitive outcomes in KBG syndrome, a rare genetic neurodevelopmental disorder characterized by pathogenic variants in ANKRD11. A single clinician interviewed individuals and families with genetically confirmed cases of KBG syndrome. Trained professionals also conducted assessments using the Vineland-3 Adaptive Behavior Scales.
View Article and Find Full Text PDFTremor-Dominant Movement Disorder in Associated KBG Syndrome.
Tremor Other Hyperkinet Mov (N Y)
September 2024
Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.
Article Synopsis
- * A case study of a 24-year-old patient revealed they had a significant tremor disorder, including various types of tremors and additional symptoms like muscle stiffness and coordination issues, alongside some developmental delays and epilepsy.
- * This case underscores the importance of recognizing movement disorders in KBG syndrome, suggesting that genetic testing for pathogenic variants should be considered when diagnosing tremor-related conditions.
Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
Orphanet J Rare Dis
August 2024
Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, Jining, Shandong, 272029, China.
Ankyrin repeat domain containing-protein 11 (ANKRD11), a transcriptional factor predominantly localized in the cell nucleus, plays a crucial role in the expression regulation of key genes by recruiting chromatin remodelers and interacting with specific transcriptional repressors or activators during numerous biological processes. Its pathogenic variants are strongly linked to the pathogenesis and progression of multisystem disorder known as KBG syndrome. With the widespread application of high-throughput DNA sequencing technologies in clinical medicine, numerous pathogenic variants in the ANKRD11 gene have been reported.
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