Dataset Information

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

ABSTRACT: Exome sequence analysis can be instrumental in identifying the genetic etiology behind atypical disease. We report a patient presenting with microcephaly, dysmorphic features, and intellectual disability with a tentative diagnosis of Dubowitz syndrome. Exome analysis was performed on the patient and both parents. A de novo missense variant was identified in ACTB, c.349G>A, p.E117K. Recent work in Baraitser-Winter syndrome has identified ACTB and ACTG1 mutations in a cohort of individuals, and we rediagnosed the patient with atypical Baraitser-Winter syndrome. We performed functional characterization of the variant actin and show that it alters cell adhesion and polymer formation supporting its role in disease. We present the clinical findings in the patient, comparison of this patient to other patients with ACTB/ACTG1 mutations, and results from actin functional studies that demonstrate novel functional attributes of this mutant protein.

SUBMITTER: Johnston JJ

PROVIDER: S-EPMC3745514 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

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Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

Johnston Jennifer J JJ Wen Kuo-Kuang KK Keppler-Noreuil Kim K McKane Melissa M Maiers Jessica L JL Greiner Alexander A Sapp Julie C JC Demali Kris A KA Rubenstein Peter A PA Biesecker Leslie G LG

Human mutation 20130528 9

Exome sequence analysis can be instrumental in identifying the genetic etiology behind atypical disease. We report a patient presenting with microcephaly, dysmorphic features, and intellectual disability with a tentative diagnosis of Dubowitz syndrome. Exome analysis was performed on the patient and both parents. A de novo missense variant was identified in ACTB, c.349G>A, p.E117K. Recent work in Baraitser-Winter syndrome has identified ACTB and ACTG1 mutations in a cohort of individuals, and we ...[more]

PMID: 23649928

Dataset Information

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

Publications

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

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