A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report. Issue 47 (24th November 2021)

• Record Type: Journal Article
• Authors: Chen, Ji-Yu; Cui, Jing-Jing; Yang, Xi-Ran; Li, Yan-Fang; Zhang, Yan-Hua; Chen, Jia-Ni; Lin, Jun-Yu; Zhao, Bo
• Editors: Saranathan., Maya
• Is Part Of: Medicine. Volume 100:Issue 47(2021)
• Page Start: e27890
• Publication Date: 2021-11-24
• Subjects: Alport syndrome -- COL4A4 -- genetics -- triple compound heterozygous; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000027890
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: Rationale: Alport syndrome (AS) is an inherited progressive renal failure, characterized by kidney disease, hearing loss, and eye abnormalities. Patient concerns: A 7-year-old male child was admitted for persistent microscopic hematuria and proteinuria. Diagnoses: Combined with clinical manifestations, laboratory testing, pathological changes of kidney and sequencing results, the patient was diagnosed as AS. Interventions: The patient was treated with ACEI and tacrolimus drugs for 2 years, but continued to have hematuria and proteinuria. Thus, a genetic analysis was performed using next-generation sequencing in four affected members from the family. Outcomes: The findings revealed triple compound heterozygous mutation of COL4A4 : three novel variations, c.1045C>T (p. R349X), c.3505+1G>A (splicing), and c.2165G>A (p. G722D). Lessons: This study was novel in finding that a triple variant of the COL4A4 gene simultaneously in trans and in cis. The effects of multiple mutation sites and the type of gene mutation in AS were also underlined.