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Article

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.

Neuromuscular disorders : NMD - 1 Jul 2014

Miyatake Satoko, Koshimizu Eriko, Hayashi Yukiko K, Miya Kazushi, Shiina Masaaki, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Saitsu Hirotomo, Ogata Kazuhiro, Nishino Ichizo, Matsumoto Naomichi

Abstract excerpt

When an expected mutation in a particular disease-causing gene is not identified in a suspected carrier, it is usually assumed to be due to germline mosaicism. We report here very-low-grade somatic mosaicism in ACTA1 in an unaffected mother of two siblings affected with a neonatal form of nemaline myopathy. The mosaicism was detected by deep resequencing using a next-generation sequencer. We identified a novel...

Topics

Child
Child, Preschool
DNA Mutational Analysis
Fathers
Female
Humans
Male
Models, Genetic
Mosaicism
Mothers
Muscles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Myopathies, Nemaline

Pedigree

Siblings

Source

Identifiers

PMID: 24852243
DOI: 10.1016/j.nmd.2014.04.002

Genes

ACTA1

Variants

Provenance

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Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.PMID 24852243Read ↗

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