Article
A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.
Scientific reports - 18 Jun 2021
Alhamoudi Kheloud M, Barhoumi Tlili, Al-Eidi Hamad, Asiri Abdulaziz, Nashabat Marwan, Alaamery Manal, Alharbi Masheal, Alhaidan Yazeid, Tabarki Brahim, Umair Muhammad, Alfadhel Majid
Abstract excerpt
DCBLD2 encodes discodin, CUB and LCCL domain-containing protein 2, a type-I transmembrane receptor that is involved in intracellular receptor signalling pathways and the regulation of cell growth. In this report, we describe a 5-year-old female who presented severe clinical features, including restrictive cardiomyopathy, developmental delay, spasticity and dysmorphic features. Trio-whole-exome sequencing and...
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