A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess.

ABSTRACT: 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 addit

SUBMITTER: Ikeuchi M 

PROVIDER: S-EPMC8019435 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature