How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome - Inserm - Institut national de la santé et de la recherche médicale Access content directly
Journal Articles American Journal of Medical Genetics Part A Year : 2023

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

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.
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inserm-03851530 , version 1 (10-05-2023)

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Mathias Schwartz, Damien Sternberg, Sandra Whalen, Alexandra Afenjar, Arnaud Isapof, et al.. How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. American Journal of Medical Genetics Part A, 2023, 176 (1), pp.151-155. ⟨10.1002/ajmg.a.38515⟩. ⟨inserm-03851530⟩
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