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 "growth factor receptor" symptom

achondroplasia

aromatase deficiency

cholangiocarcinoma

dedifferentiated liposarcoma

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

kallmann syndrome

lymphangioleiomyomatosis

oral submucous fibrosis

proteus syndrome

severe combined immunodeficiency

wiskott-aldrich syndrome

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