Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity

Keiko Aso; Takehiko Soutome; Mari Satoh; Takako Aoki; Hiromi Ogura; Toshiyuki Yamamoto; Hitoshi Kanno; Hiroyuki Takahashi

doi:10.1002/ccr3.6070

Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity

Clin Case Rep. 2022 Jul 19;10(7):e6070. doi: 10.1002/ccr3.6070. eCollection 2022 Jul.

Authors

Keiko Aso¹, Takehiko Soutome¹, Mari Satoh¹, Takako Aoki², Hiromi Ogura², Toshiyuki Yamamoto³, Hitoshi Kanno², Hiroyuki Takahashi¹

Affiliations

¹ Department of Pediatrics Toho University Omori Medical Center Tokyo Japan.
² Department of Transfusion Medicine and Cell Processing Tokyo Women's Medical University Tokyo Japan.
³ Institute of Medical Genetics Tokyo Women's Medical University Tokyo Japan.

Abstract

We report the case of a Filipino girl with autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia caused by homozygous variants in the genes SLC4A1 and ITGA2B within the long homozygous DNA region on chromosome 17q21.31. This haplotype may be retained among individuals of Filipino descent.

Keywords: Glanzmann thrombasthenia; ITGA2B; SLC4A1; distal renal tubular acidosis; long runs of homozygosity.

Publication types

Case Reports