Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

Article Details

Citation

Kraner S, Laufenberg I, Strassburg HM, Sieb JP, Steinlein OK

Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

Arch Neurol. 2003 May;60(5):761-3.

PubMed ID
12756141 [ View in PubMed
]
Abstract

BACKGROUND: The syndrome of congenital myasthenia with episodic apnea (CMS-EA) was previously found to be due to mutations in the choline acetyltransferase gene (CHAT). OBJECTIVE: To identify the mutations underlying CMS-EA in a Turkish multiplex family. DESIGN: Direct sequencing of the CHAT gene. PATIENTS: A consanguineous Turkish family with 2 siblings affected by muscular weakness and episodic respiratory distress. RESULTS: The sequencing of CHAT coding exons identified a previously unknown missense mutation that affected a highly conserved amino acid residue (I336T). The mutation was absent in 164 control chromosomes. CONCLUSIONS: The high degree of conservation in different species strongly suggests that I336T is a functionally important amino acid residue. The absence of I336T from a large control sample further supports the pathogenic role of I336T in CMS-EA. This is the second report of CHAT mutations causing presynaptic CMS.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Choline O-acetyltransferaseP28329Details