PAX3 gene deletion detected by microarray analysis in a girl with hearing loss

Molecular Cytogenetics

Olga Haus²  Malgorzata Drozniewska¹ 

[1] West Midlands Genetics Laboratories, Birmingham Women's Hospital NHS Foundation Trust, Edgbaston, B15 2TG Birmingham, UK;Department of Hematology, Blood Cancer and Bone Marrow Transplantation, Medical University, Pasteura 4, 50-367 Wroclaw, Poland

关键词: Craniofacial-deafness-hand syndrome;    Waardenburg syndrome;    Hearing loss;    Array-CGH;    PAX3 gene;   

Others  :  1150113
DOI  :  10.1186/1755-8166-7-30

 received in 2014-02-03, accepted in 2014-04-10,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Drozniewska and Haus; licensee BioMed Central Ltd.

【 图 表 】

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