Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene.

ABSTRACT: Histamine is involved in various physiological functions like sleep-wake cycle and stress regulation. The histamine N-methyltransferase (HNMT) enzyme is the only pathway for termination of histamine neurotransmission in the central nervous system. Experiments with HNMT knockout mice generated aggressive behaviours and dysregulation of sleep-wake cycles. Recently, seven members of two unrelated consanguineous families have been reported in whom two different missense HNMT mutations were identified. All showed severe intellectual disability, delayed speech development and mild regression from the age of 5 years without, however, any dysmorphisms or congenital abnormality. A diagnosis of mental retardation, autosomal recessive 51 was made. Here, we describe a severely mentally retarded adoles

SUBMITTER: Verhoeven WMA 

PROVIDER: S-EPMC7735107 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature