Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes

Area of Science:

• Genetics
• Molecular Biology
• Clinical Medicine

Background:

• KBG syndrome is a rare autosomal dominant disorder.
• It is characterized by distinct facial features, macrodontia, limb abnormalities, developmental delay, and short stature.
• ANKRD11 gene mutations or deletions are the known cause.

Observation:

• This article details a clinical and molecular case study of two KBG syndrome patients.
• The first patient was diagnosed via next-generation sequencing, revealing a novel pathogenic variant in the ANKRD11 gene.
• The second patient was diagnosed through microarray analysis, identifying a 16q24.2q24.3 deletion that includes the ANKRD11 gene.

Findings:

• Identification of a novel pathogenic variant in the ANKRD11 gene in one patient.
• Detection of a 16q24.2q24.3 deletion encompassing the ANKRD11 gene in the second patient.
• Both cases confirm the etiological role of ANKRD11 gene alterations in KBG syndrome.

Implications:

• These findings expand the mutational spectrum of the ANKRD11 gene in KBG syndrome.
• Molecular diagnostics are crucial for accurate KBG syndrome diagnosis.
• Further research into ANKRD11 gene function may elucidate KBG syndrome pathogenesis.