Open AccessA case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess
Author(s) -
Mayo Ikeuchi,
Kyoko Kiyota,
Tomoyo Itonaga,
Fumika Kawano-Matsuda,
Yasuhisa Ohata,
Makoto Fujiwara,
Takuo Kubota,
Keiichi Ozono,
Kenji Ihara
Publication year - 2020
Publication title -
cen case reports
Language(s) - English
Resource type - Journals
ISSN - 2192-4449
DOI - 10.1007/s13730-020-00551-0
Subject(s) - medicine , tetralogy of fallot , hypoparathyroidism , sensorineural hearing loss , digeorge syndrome , complication , gata3 , pathology , hearing loss , heart disease , genetics , biology , psychiatry , transcription factor , audiology , gene
HDR syndrome is characterized by the triad of primary hypoparathyroidism, sensorineural hearing loss and renal malformation with widely variable manifestations. It is an autosomal dominant inherited disease caused by a mutation of the GATA3 (NM_001002295.2), which is located on chromosome 10p14. Congenital heart disease, such as tetralogy of Fallot, a typical complication of DiGeorge syndrome, is a rare complication of HDR syndrome. We herein report a case of HDR syndrome coexisting tetralogy of Fallot with a novel mutation, c.964C > T (p.Gln322*). This case suggested that the screening of renal involvement should be carefully performed in patients with a phenotypic combination of hypoparathyroidism and sensorineural hearing loss, to facilitate the early diagnosis of HDR syndrome. In addition, when the deletion of chromosome 22q11.2 is not detected by a fluorescence in situ hybridization analysis in patients exhibiting the partial phenotype of DiGeorge syndrome, the possibility of HDR syndrome should be considered and the renal function should be repeatedly evaluated.