TY - JOUR
T1 - ERI1
T2 - A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities
AU - Hoxha, Valbona
AU - Aliu, Ermal
N1 - Publisher Copyright:
© 2022 Wiley Periodicals LLC.
PY - 2023/1
Y1 - 2023/1
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.a.62987
DO - 10.1002/ajmg.a.62987
M3 - Article
C2 - 36208065
AN - SCOPUS:85139405726
SN - 1552-4825
VL - 191
SP - 64
EP - 69
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -