How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. Issue 1 (12th November 2017)

• Record Type: Journal Article
• Authors: Schwartz, Mathias; Sternberg, Damien; Whalen, Sandra; Afenjar, Alexandra; Isapof, Arnaud; Chabrol, Brigitte; Portnoï, Marie‐France; Heide, Solveig; Keren, Boris; Chantot‐Bastaraud, Sandra; Siffroi, Jean‐Pierre
• Is Part Of: American journal of medical genetics. Volume 176:Issue 1(2018)
• Page Start: 151
• Page End: 155
• Publication Date: 2017-11-12
• Subjects: choline acetyl‐transferase -- compound heterozygoty -- single nucleotide polymorphisms array -- vesicular acetyl‐choline transporter; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38515
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : A congenital myasthenia was suspected in two unrelated children with very similar phenotypes including several episodes of severe dyspnea. Both children had a 10q11.2 deletion revealed by Single Nucleotide Polymorphisms array or by Next Generation Sequencing analysis. The deletion was inherited from the healthy mother in the first case. These deletions unmasked a recessive mutation at the same locus in both cases, but in two different genes: CHAT and SLC18A3 .