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How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome
Author(s) -
Schwartz Mathias,
Sternberg Damien,
Whalen Sandra,
Afenjar Alexandra,
Isapof Arnaud,
Chabrol Brigitte,
Portnoï MarieFrance,
Heide Solveig,
Keren Boris,
ChantotBastaraud Sandra,
Siffroi JeanPierre
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38515
Subject(s) - congenital myasthenic syndrome , genetics , phenotype , locus (genetics) , mutation , gene , biology , mutation testing
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 .