title: A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.
abstract: OBJECTIVE
  The aim of this work was to report a case of an Emirati child who presented with developmental delay and multiple congenital abnormalities that are consistent with distal arthrogryposis type 5D.
  
  
  METHODS
  The clinical presentation comprised contractures of the shoulders, elbows, and knees in addition to camptodactyly and neck pterygium. The facial dysmorphic features noted include ptosis and microretrognathia. Importantly, left orchidopexy was also observed and corrected surgically. Whole exome sequencing revealed that the patient is homozygous for the novel c.1184+1G>T variant in endothelin-converting enzyme-like 1 (ECEL1).
  
  
  CONCLUSIONS
  This is a case of a novel homozygous splice site mutation in the ECEL1 gene in a child with a phenotype consistent with distal arthrogryposis type 5D. The child was born to consanguineous Emirati parents heterozygous for the novel ECEL1 mutation.
authors.affiliation: Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
authors.forename: Abdul Rezzak
authors.initials: AR
authors.lastname: Hamzeh
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nair
authors.forename: Madiha
authors.initials: M
authors.lastname: Mohamed
authors.forename: Fatima
authors.initials: F
authors.lastname: Saif
authors.forename: Nafisa
authors.initials: N
authors.lastname: Tawfiq
authors.forename: Mohamed
authors.initials: M
authors.lastname: Khalifa
authors.forename: Mahmoud Taleb
authors.initials: MT
authors.lastname: Al-Ali
authors.forename: Fatma
authors.initials: F
authors.lastname: Bastaki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D006801:Humans; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D010641:Phenotype
chemical_list: C492359:ECEL1 protein, human; D008666:Metalloendopeptidases