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New case of Baraitzer-Winter Cerebrofrontofacial syndrome due to p.Ile136Val mutation in ACTB gene

https://doi.org/10.25557/2073-7998.2019.05.44-50

Abstract

Introduction Baraitser-Winter Syndrome (BWCFF) is a very rare autosomal dominant hereditary disease caused by mutations in the ACTB and ACTG1 genes. Almost all known cases of this disease are caused by de novo missense mutations in the ACTB and ACTG1. In this paper we present a new case of BWCFF syndrome, due to p.Ile136Val mutation in the ACTB gene. Patients and methods. Proband - a boy, 6 years 8 months, out of twins. The patient’s phenotype was analyzed using the Face2Gene application. Direct sequencing of 1-4 exons and the adjacent intron sequences of the ACTB gene was performed in proband and all members of his family. Results. The proband has characteristic symptoms of BWCFF: postnatal borderline microcephaly, facial dysmorphism, iris colobomas of both eyes, short, webbed neck, epilepsy, congenital heart defect. Unlike most cases of the syndrome the patient does not have developmental delay and gross changes in the cortex or other structures of the brain. ACTB gene sequencing resulted in detection of heterozygous missense mutation p.406A> G (p.Ile136Val, rs1554329352) in proband. This mutation was not found in his parents and healthy siblings. Conclusion The use of modern phenotyping technologies allowed us to suggest the correct clinical diagnosis, to conduct an effective targeted search for mutations in the ACTB gene and diagnose a new case of BWCFF syndrome.

About the Authors

A. A. Gusina
The Mother and Child National Research Center
Russian Federation


S. L. Kulikova
Republican Research and Clinical Center of Neurology and Neurosurgery
Russian Federation


V. D. Kulak
The Mother and Child National Research Center
Russian Federation


N. B. Gusina
The Mother and Child National Research Center
Russian Federation


Review

For citations:


Gusina A.A., Kulikova S.L., Kulak V.D., Gusina N.B. New case of Baraitzer-Winter Cerebrofrontofacial syndrome due to p.Ile136Val mutation in ACTB gene. Medical Genetics. 2019;18(5):44-50. (In Russ.) https://doi.org/10.25557/2073-7998.2019.05.44-50

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ISSN 2073-7998 (Print)