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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: Multiple pterygium syndromes comprise a group of heterogeneous disorders divided into prenatally lethal and non-lethal (Escobar) types. Non-lethal multiple pterygium syndrome can be caused by recessive mutations in the gene CHRNG, encoding the gamma subunit of the acetylcholine receptor (AChR). Lethal multiple pterygium syndrome can either be caused by recessive mutations in the gene CHRNG or by mutations in the genes CHRNA1 and CHRND, encoding respectively the alpha and the delta subunits of the acetylcholine receptor. Mutations in these latter genes can also cause congenital myasthenic syndromes.
Choline acetyltransferase may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case–control study
Published in The World Journal of Biological Psychiatry, 2018
Xiuling Yang, Wenmiao Liu, Mingji Yi, Ru Zhang, Yinglei Xu, Zuzhou Huang, Shiguo Liu, Tang Li
The striatum is the input nucleus of the cortico-basal ganglia circuitry, which is believed to be involved in the pathophysiology of TS (Leckman et al. 2010). In particular, the dorsolateral striatum (DLS) is related to sensorimotor habits (Yin & Knowlton 2006) and tic-like stereotypies in rodents (Taylor et al. 2002). Previous research has revealed a reduction in striatal volume in TS patients (Leckman et al. 2010), which may be parallel to the severity and persistence of symptoms (Bloch et al. 2005). Recent post-mortem studies have demonstrated this specific abnormality was that cholinergic interneurons are reduced by 50% in the striatum in TS patients (Kataoka et al. 2010; Lennington et al. 2014). Choline acetyltransferase (CHAT) is located on chromosome 10q11.2, divided into 18 exons and expressed broadly throughout the central nervous system, being a crucial component of cholinergic interneurons. The protein encoded by CHAT (ChAT) is a key catalytic enzyme for synthesising the neurotransmitter acetylcholine (Ach) using choline and acetyl-CoA as substrates. By regulating the biosynthesis of Ach, ChAT regulates a number of neural functions such as cognitive performance, arousal, sleep, movement and the processing of visual information (Beelke & Sannita 2002). Resulting from its contribution to these functions, CHAT has also been reported as a candidate gene for schizophrenia and Alzheimer’s disease, in which reduced ChAT activity is seen (Harold et al. 2006; Mancama et al. 2007). In addition, previous studies have revealed that there is a positive correlation between choline-related candidate genes, such as CHRNA1, CHRNA9, CHRNA10 and CHRNG, and tic severity in TS (Tian et al. 2011).