Reclassification of Two COL4A4 Gene Variants of Uncertain Significance in a Korean Family with Alport Syndrome by Transcript Analysis and Trio Testing
Year: 2026
Type: article
Study design: Case Report
Abstract: ears and eyes, patients with AS often display symptoms of sensorineural hearing loss and/or various eye abnormalities, including corneal and macular defects [2].An additional characteristic of note is the physical location and differential inheritance pattern of collagen IV genes.COL4A3 (OMIM *120070) and COL4A4 (OMIM *120131) are located on chromosome 2, exhibiting autosomal recessive and autosomal dominant inheritance patterns, whereas COL4A5 (OMIM *303630) is found on the X chromosome, resulting in an X-linked inheritance pattern [1, 3].Recent studies have indicated that early intervention leads to a better prognosis [4], and research suggests that confirmation through genetic testing may be more reliable than traditional pathology methods [5, 6].The proband, an eight-year-old girl diagnosed with AS, was referred to our hospital for the management of nephrotic syndrome.She had been followed up in the pediatric department of another Hereditary nephritis or Alport syndrome (AS; OMIM #203780, #301050, #104200) comprises a heterogeneous group of diseases, mainly characterized by the progressive loss of kidney function arising from abnormalities in the basement membrane due to mutations in collagen IV genes [1].As collagen IV is also found in the 한국인 알포트 증후군 환자에서 발견된 두 COL4A4 유전자 미분류 변이의 가족 검사 및 RNA 염기서열분석을 통한 재분류 Reclassification of Two COL4A4 Gene Variants of Uncertain Significance in a Korean Family with Alport Syndrome by Transcript Analysis and Trio Testing
Source: Laboratory Medicine Online
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Award: G3061661371
OpenAlex ID: W7165807647
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