Journal article
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations
Ophthalmic Genetics, Vol.38(2), pp.152-156
03/04/2017
DOI: 10.3109/13816810.2016.1164196
PMCID: PMC5722223
PMID: 27096712
Abstract
Baraitser-Winter syndrome (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by hypertelorism, ptosis, high-arched eyebrows, ocular coloboma, and brain malformations. Other common manifestations include hearing loss, short stature, seizures, intellectual impairment, muscle dysfunction, and abnormalities of the kidney and urinary system. This syndrome is caused by missense mutations in the genes ACTB or ACTG1, both of which encode for cytoplasmic actin proteins crucial for proper development of many organs in the human body. There are no reports of familial transmission; all reported cases have been new mutations. However, different mutations in ACTG1 have been reported to cause isolated non-syndromic hearing loss, with many reported cases of autosomal dominant (AD) inheritance. We have identified a three-generation pedigree segregating a novel mutation in the ACTG1 gene that causes Baraitser-Winter Syndrome with extremely variable expressivity, leading to an initial diagnosis of isolated AD hearing loss in two members. Subtle optic nerve signs not previously reported in this syndrome are also documented in one patient.
Details
- Title: Subtitle
- A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations
- Creators
- Andrew Kemerley - Department of Ophthalmology and Visual Sciences, University of IowaChristina Sloan - Department of Otolaryngology, University of IowaWanda Pfeifer - Department of Ophthalmology and Visual Sciences, University of IowaRichard Smith - Department of Otolaryngology, University of IowaArlene Drack - Department of Ophthalmology and Visual Sciences, University of Iowa
- Resource Type
- Journal article
- Publication Details
- Ophthalmic Genetics, Vol.38(2), pp.152-156
- DOI
- 10.3109/13816810.2016.1164196
- PMID
- 27096712
- PMCID
- PMC5722223
- NLM abbreviation
- Ophthalmic Genet
- ISSN
- 1381-6810
- eISSN
- 1744-5094
- Publisher
- Taylor & Francis
- Grant note
- N/A / Foundation Fighting Blindness T32 GM007337; DC003544; DC002842; DC012049 (RJHS) / National Institutes of Health (10.13039/100000002) N/A / Research to Prevent Blindness (10.13039/100001818)
- Language
- English
- Date published
- 03/04/2017
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980086102771
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