Kabuki syndrome

Kabuki syndrome is a rare congenital disorder marked by distinctive facial features, developmental differences, and variable abnormalities across multiple organ systems. It is usually caused by pathogenic variants in KMT2D or KDM6A.

Epigenetics: Epigenetics is the regulation of gene activity through mechanisms that do not change DNA sequence. Both principal Kabuki syndrome genes encode enzymes that modify chromatin and gene activity.
Histone methylation: Histone methylation is the addition of methyl groups to histone proteins, influencing chromatin structure and gene activity. KMT2D adds methyl marks associated with active enhancers during development.
Molecular diagnosis: Molecular diagnosis identifies a condition by detecting disease-associated changes in DNA or other molecular markers. Testing KMT2D and KDM6A can confirm Kabuki syndrome when clinical findings suggest it.
CHARGE syndrome: CHARGE syndrome is a congenital disorder commonly caused by CHD7 variants and involving characteristic sensory and organ-system abnormalities. It can share developmental delay and congenital anomalies, but its pattern and genetic cause differ.
Norwegian National Centre for Rare Disorders: The Norwegian National Centre for Rare Disorders is a specialist institution supporting diagnosis, care, and research for rare conditions. Its clinical resources help document Kabuki syndrome features and guide multidisciplinary care.
Congenital disorder: A congenital disorder is a condition present at birth, whether inherited or arising during development. Kabuki syndrome originates during development and can affect several organs from birth.
Histone demethylation: Histone demethylation removes methyl groups from histone proteins and can alter gene expression. KDM6A removes repressive methyl marks, complementing KMT2D’s role in gene regulation.
Exome sequencing: Exome sequencing reads most protein-coding regions of the genome to identify genetic variants. It can identify causative variants when targeted testing does not explain a suspected case.
Coffin–Siris syndrome: Coffin–Siris syndrome is a developmental disorder often involving sparse fifth fingernails, coarse features, and variants in chromatin-regulating genes. Its chromatin-related causes and developmental features overlap, while characteristic findings help distinguish it.
Yoshikazu Kuroki: Yoshikazu Kuroki is a Japanese physician and geneticist who helped characterize Kabuki syndrome. Kuroki’s clinical work contributed to the syndrome’s early description and recognition.

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Cornelia de Lange syndromeCompared with: Its facial and developmental features can overlap with Cornelia de Lange syndrome.