Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis Dan Mejlachowicz, Flora Nolent, Jérome.

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Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis Dan Mejlachowicz, Flora Nolent, Jérome Maluenda, Hanitra Ranjatoelina-Randrianaivo, Fabienne Giuliano, Ivo Gut, Damien Sternberg, Annie Laquerrière, Judith Melki The American Journal of Human Genetics Volume 97, Issue 4, Pages 616-620 (October 2015) DOI: 10.1016/j.ajhg.2015.08.010 Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 1 Truncating Mutation of Paternal MAGEL2 Allele in Family 1 and RNA Studies (a) Sequencing of DNA showing the MAGEL2 c.1996delC mutation in family 1 (I:2; II:2; III-1 to III-3). Arrows indicate mutant nucleotide position. (b) PCR analysis of MAGEL2 (1–4, 660 bp) and β-actin (5 and 6, 250 bp) in affected individuals (2, 4, and 6) and control individuals (1, 3, and 5) after reverse transcription (RT; 1 and 2) or without RT of RNA (3 and 4). Note the marked reduction of MAGEL2 in the affected individual (2) with respect to the control individual (1) and β-actin (5 and 6). MW, molecular weight. (c) Sequencing of the MAGEL2 RT-PCR products showing the paternally mutated allele only in the affected individual. The American Journal of Human Genetics 2015 97, 616-620DOI: (10.1016/j.ajhg.2015.08.010) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 2 De Novo Truncating Mutation Occurring on the Paternal MAGEL2 Allele in Family 2 and RNA Studies (a) Sequencing of DNA showing the de novo MAGEL2 c.2118delT mutation in affected individual II:1. Arrows indicate mutant nucleotide position. Sequencing of MAGEL2 RT-PCR products (RNA) from affected individual II:1 revealed the mutated allele only. (b) Sequencing of DNA showing the rs2233070 polymorphism inherited from the mother (I:2 and II:1, arrow). Sequencing of MAGEL2 RT-PCR products (RNA) from affected individual II:1 revealed the paternal allele only. The American Journal of Human Genetics 2015 97, 616-620DOI: (10.1016/j.ajhg.2015.08.010) Copyright © 2015 The American Society of Human Genetics Terms and Conditions