title: A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features.
abstract: 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 3.2Mb. We identified a 3.7Mb 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.
authors: Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.
authors: Kazushi
authors: K
authors: Miya
authors: Keiko
authors: K
authors: Shimojima
authors: Midori
authors: M
authors: Sugawara
authors: Shino
authors: S
authors: Shimada
authors: Hiroyuki
authors: H
authors: Tsuri
authors: Tomomi
authors: T
authors: Harai-Tanaka
authors: Sachiko
authors: S
authors: Nakaoka
authors: Hirokazu
authors: H
authors: Kanegane
authors: Toshio
authors: T
authors: Miyawaki
authors: Toshiyuki
authors: T
authors: Yamamoto
mesh_terms: D017487:Ankyrins / Q000097:blood / Q000172:deficiency / Q000235:genetics*; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D057895:Haploinsufficiency; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D017436:Kallmann Syndrome / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000235:genetics*
chemical_list: C110202:ANK1 protein, human; D017487:Ankyrins; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1