Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification.

Journal: Journal of medical genetics
Published Date:

Abstract

BACKGROUND: Autosomal dominant (AD) inheritance often arises through haploinsufficiency, dominant-negative or gain of function (GoF) effects, while autosomal recessive (AR) inheritance generally results from partial or complete loss of function (LoF). Yet, a subset of genes demonstrates both inheritance patterns. We aimed to curate a list of such 'AD/AR' genes and to propose additional candidates.

Authors

  • Shlomit Ezer
    Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Tal Sido
    Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Jonathan Rips
    Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Ronit Hoffman Lipschuetz
    Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Adina Fuchs
    Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Bassam Abu-Libdeh
    Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, East Jerusalem, Palestine.
  • Elena Chervinsky
    The Genetics Institute and Center of Rare Diseases, Emek Medical Center, Afula, Israel.
  • Nadirah S Damseh
    Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, East Jerusalem, Palestine.
  • Nada Danial-Farran
    The Genetics Institute and Center of Rare Diseases, Emek Medical Center, Afula, Israel.
  • Ilham Morani
    Department of Genetics, Ziv Medical Center, Safed, Israel.
  • Ann Saada
    Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Mohammed Al-Raqad
    INNOVIA Genetic Health Center, INNOVIA Biobank, Amman, Jordan.
  • Somaya Salah
    Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Shira Yanovsky-Dagan
    Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Nadra Samra
    Department of Genetics, Ziv Medical Center, Safed, Israel.
  • Hanna Mandel
    Department of Genetics and Metabolic Disorders, Ziv Medical Center, Safed, Israel.
  • Stavit A Shalev
    The Genetics Institute and Center of Rare Diseases, Emek Medical Center, Afula, Israel.
  • Hagar Mor-Shaked
    Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.
  • Joël Zlotogora
    Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Tamar Harel
    Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel tamarhe@hadassah.org.il.

Keywords

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