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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

Schwartz, Mathias ; Sternberg, Damien ; Whalen, Sandra ; [et al.]

Wiley ; 2018

In: American Journal of Medical Genetics Part A Vol. 176, No. 1 ( 2018-01), p. 151-155

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In: American Journal of Medical Genetics Part A, Wiley, Vol. 176, No. 1 ( 2018-01), p. 151-155

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 .

Type of Medium: Online Resource

ISSN: 1552-4825 , 1552-4833

URL: Issue

URL: Article

DOI: 10.1002/ajmg.a.v176.1

DOI: 10.1002/ajmg.a.38515

Language: English

Publisher: Wiley

Publication Date: 2018

detail.hit.zdb_id: 1493479-6

SSG: 12