Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.

ABSTRACT:

Objective

To analyze the modulation of the phenotype in manifesting carriers of recessive X-linked myotubular myopathy (XLMTM), searching for possible genetic modifiers.

Methods

Twelve Brazilian families with XLMTM were molecularly and clinically evaluated. In 2 families, 4 of 6 and 2 of 5 manifesting female carriers were identified. These females were studied for X chromosome inactivation. In addition, whole-exome sequencing was performed, looking for possible modifier variants. We also determined the penetrance rate among carriers of the mutations responsible for the condition.

Results

Mutations in the MTM1 gene were identified in all index patients from the 12 families, being 4 of them novel. In the heterozygotes, X chromosome inactivation was random in 3 of

SUBMITTER: Souza LS 

PROVIDER: S-EPMC7524580 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature