PAX3 gene deletion detected by microarray analysis in a girl with hearing loss.
Deletions of the PAX3 gene have been rarely reported in the literature. Mutations of this gene are a common cause of Waardenburg syndrome type 1 and 3. We report a 16 year old female presenting hearing loss and normal intellectual development, without major features of Waardenburg syndrome type 1, and without family history of the syndrome. Her phenotype, however, overlaps with features of craniofacial-deafness-hand syndrome. Microarray analysis showed ~862 kb de novo deletion at 2q36.1 including PAX3. The above findings suggest that the rearrangement found in our patient appeared de novo and with high probability is a cause of her phenotype.
Department of Clinical Genetics, Collegium Medicum Nicolaus Copernicus University, Skłodowskiej-Curie 9, 85-094 Bydgoszcz, Poland ; West Midlands Genetics Laboratories, Birmingham Women's Hospital NHS Foundation Trust, Edgbaston, B15 2TG Birmingham, UK.
Malgorzata
M
Drozniewska
Department of Clinical Genetics, Collegium Medicum Nicolaus Copernicus University, Skłodowskiej-Curie 9, 85-094 Bydgoszcz, Poland ; Department of Hematology, Blood Cancer and Bone Marrow Transplantation, Medical University, Pasteura 4, 50-367 Wroclaw, Poland.
Olga
O
Haus
Array-CGH; Craniofacial-deafness-hand syndrome; Hearing loss; PAX3 gene; Waardenburg syndrome