Ontology highlight
ABSTRACT:
SUBMITTER: Koopmann TT
PROVIDER: S-EPMC9823012 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
Koopmann Tamara T TT Jamshidi Yalda Y Naghibi-Sistani Mohammad M van der Klift Heleen M HM Birjandi Hassan H Al-Hassnan Zuhair Z Alwadai Abdullah A Zifarelli Giovanni G Karimiani Ehsan G EG Sedighzadeh Sahar S Bahreini Amir A Nouri Nayereh N Peter Merlene M Watanabe Kyoko K van Duyvenvoorde Hermine A HA Ruivenkamp Claudia A L CAL Teunissen Aalbertine K K AKK Ten Harkel Arend D J ADJ van Duinen Sjoerd G SG Haak Monique C MC Prada Carlos E CE Santen Gijs W E GWE Maroofian Reza R
European journal of human genetics : EJHG 20221017 1
Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of cardiomyopathy and myofibrillar myopathy in humans. However, despite knockout mice displaying a much more severe phenotype with premature death, bi-allelic variants in LDB3 have not yet been reported. Here we identify biallelic loss-of-function variants in five unrelated cardiomyopathy families by next-generation sequencing. In the first family, we i ...[more]