Importance of family segregation in the American College of Medical Genetics and Genomics and Association of Molecular Pathology guidelines: Case of a Korean family with autosomal dominant polycystic disease

• 발행기관: 대한의학유전학회
• 저자명: Won Kyung Kwon Suhee Kim Ja-Hyun Jang Jong-Won Kim
• 간행물 정보: 『대한의학유전학회지』제17권 제1호, 51~54쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2020.06.30

영문 초록

Since the American College of Medical Genetics and Genomics and Association of Molecular Pathology published their guidelines in 2015, most interpretations of genetic tests have followed them. However, all variants have only limited evidence along 28 interpretation standards, especially de novo variants. When de novo variants, which are classified as variants of uncertain signiἀcance (VUS) due to lack of evidence, are detected, segregation in the affected family could provide an impor-tant key to clarifying the variants. Autosomal dominant polycystic kidney disease is the most common inherited kidney dis-order with pathogenic variants in the PKD1 or PKD2 genes. We detected a novel in-frame deletion variant in the PKD1 gene, c.7575_7577del (p.(Cys2526del)), which was interpreted as a VUS. We analyzed this variant in a Korean family to decide for segregation. Here, we report the variant as a likely pathogenic variant based on the evidence of segregation in three affected relatives and two unaffected members.

목차

Introduction

Case

Discussion

References

키워드

Autosomal dominant Polycystic kidney Polycystic kidney disease 1 protein