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

[kallmann syndrome]

The contiguous gene syndrome involving 8 p 11 .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 (FGFR 1 ) and ankyrin 1 (ANK 1 ) genes , respectively , are located in this region within a distance of 3 .2 Mb . We identified a 3 .7 Mb deletion of 8 p 11 .2 in a 19 -month -old female patient with hereditary spherocytosis . The identified deletion included ANK 1 , but not FGFR 1 , 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 8 p , indicating a pure interstitial deletion of 8 p 11 .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 .

Diseases
Validation

Diseases presenting "spherocytosis" symptom

benign recurrent intrahepatic cholestasis

kallmann syndrome

This symptom has already been validated