Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome Neil V. Morgan,

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome Neil V. Morgan, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Jenny E.V. Morton, Christine Oley, Colin A. Johnson, Richard C. Trembath, Han G. Brunner, Eamonn R. Maher The American Journal of Human Genetics Volume 79, Issue 2, Pages 390-395 (August 2006) DOI: 10.1086/506256 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees for families included in this study The American Journal of Human Genetics 2006 79, 390-395DOI: (10.1086/506256) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 Clinical features of subjects with CHRNG mutations and Escobar (A–H) and lethal (I and J) variants of MPS. An affected child from family MPS001 demonstrates an expressionless face and webbing of neck, axillae, and elbows (A); webbing of neck (posterior view) (B); thumb pterygium and camptodactyly (C); and popliteal pterygia and rocker-bottom feet (D). In family MPS015, an affected individual has neck pterygium (E) and pterygia and fixed flexion deformities at elbow (F), lower limbs (G), and hand (H). Elbow pterygium (I [arrow]) and muscle histopathology demonstrate an abnormal myotubular appearance (J) in a case of LMPS (from family MPS008). The American Journal of Human Genetics 2006 79, 390-395DOI: (10.1086/506256) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 3 Identification of a common region of autozygosity in two families with MPS. The smallest region of overlap extended from D2S1363 to D2S206. The American Journal of Human Genetics 2006 79, 390-395DOI: (10.1086/506256) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 4 Localization of MPS mutations on the CHRNG gene product that comprises a large extracellular N-terminal ligand-binding region, three hydrophobic transmembrane domains, a large intracellular region, and a fourth hydrophobic domain. All mutations mapped to the extracellular or first transmembrane domains. The American Journal of Human Genetics 2006 79, 390-395DOI: (10.1086/506256) Copyright © 2006 The American Society of Human Genetics Terms and Conditions