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

Schwartz Mathias | Zendy; Sternberg Damien | Zendy; Whalen Sandra | Zendy; Afenjar Alexandra | Zendy; Isapof Arnaud | Zendy; Chabrol Brigitte | Zendy; Portnoï MarieFrance | Zendy; Heide Solveig | Zendy; Keren Boris | Zendy; ChantotBastaraud Sandra | Zendy; Siffroi JeanPierre | Zendy

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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 .

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