A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features

作者：Miya Kazushi; Shimojima Keiko; Sugawara Midori; Shimada Shino; Tsuri Hiroyuki; Harai Tanaka Tomomi; Nakaoka Sachiko; Kanegane Hirokazu; Miyawaki Toshio; Yamamoto Toshiyuki^*

来源：Gene, 2012, 506(1): 146-149.

DOI：10.1016/j.gene.2012.06.086

• Hereditary spherocytosis
• Ankyrin 1 gene (ANK1)
• Contiguous gene syndrome
• 8p11.2
• Chromosomal microarray testing

The contiguous gene syndrome involving 8p11.2 is recognized as a combined phenotype of both Kallmann syndrome and hereditary spherocytosis, because the genes responsible for these 2 clinical entities, the fibroblast growth factor receptor 1 (FGFR1) and ankyrin 1 (ANK1) genes, respectively, are located in this region within a distance of 3.2 Mb. We identified a 3.7 Mb deletion of 8p11.2 in a 19-month-old female patient with hereditary spherocytosis. The identified deletion included ANK1, but not FGFR1, which is consistent with the absence of any phenotype or laboratory findings of Kallmann syndrome. Compared with the previous studies, the deletion identified in this study was located on the proximal end of 8p, indicating a pure interstitial deletion of 8p11.21. This patient exhibited mild developmental delay and distinctive facial findings in addition to hereditary spherocytosis. Thus, some of the genes included in the deleted region would be related to these symptoms.

• 出版日期2012-9-10