ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities

Valbona Hoxha, Ermal Aliu

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

ERI1 is an evolutionary conserved 3′–5′ exonuclease with an important function in multiple RNA processing pathways. Although the molecular mechanisms in which ERI1 is involved have been studied extensively in model organisms, the pathology associated with ERI1 variants in humans has remained elusive because no case has been reported so far. Here, we present a case of a female patient with a homozygous nonsense variant in ERI1 gene. The patient exhibits mild intellectual disability, eyelid ptosis, and anomalies in her hands and feet (brachydactyly, clinodactyly, dysplastic/short nail of halluces, brachytelephalangy, short metacarpals, and toe syndactyly). This case report is the first of its kind and is invaluable for understanding ERI1 pathology in humans.

Original languageEnglish (US)
Pages (from-to)64-69
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume191
Issue number1
DOIs
StatePublished - Jan 2023

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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