[MIM 616 268]

(Dominant autosomal intellectual deficiency-craniofacial abnormalities-hypotonia-cardiopathy)

Rare. Sporadic mutation (but some cases of autosomal dominant transmission) of the KAT6A gene (or MYST3 or MOZ) (8p11.21) coding  for the histone acetyltransferase, which is part of the acetyltransferase histone complex that regulates gene transcription and expression and the acetylation of the P53 pathway (apoptosis, cellular metabolism). These abnormalities may induce a secondary mitochondrial dysfunction.

Other mutations in the same gene can produce myeloblastic leukemia associated with translocation (8, 16) (p11, p13).

Very variable clinical presentation:

-        moderate to severe intellectual disability: delay or lack of speech acquisition

-        hypotonia: delay in acquisition of sitting position

-        cardiac abnormality: VSD, ASD, ductus arteriosus

-        eye abnormalities: strabismus, nystagmus

-        progressive microcephaly, sometimes craniosynostosis

-        tracheo- and bronchomalacia, hyperreactivity of the airways

-        sleep disorders and obstructive sleep apnea

-        facial dysmorphism: broad nose tip, thin upper lip, cleft palate, ptosis, narrow temporal bones; micrognathia; low implanted  ears

-        eating problems: dysphagia (gastrostomy), gastroesophageal reflux, frequent aspirations, constipation

-        dental abnormalities

-        clinodactyly

-        behavioral disorders: autistic traits

Anesthetic implications:

risk of difficult intubation; risk of airway obstruction; tracheo-bronchomalacia; risk of perioperative aspirations; echocardiography

References :

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Updated: February 2020