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.

Clinical presentation and intervention: 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).

Conclusion: 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.

Fig. 1

Clinical features of the patient with homozygous ECEL1 and CHRNG mutations. These features include puckering of the tongue (a) and pterygium between the chin and sternum (b), as well as facial dysmorphic features including plagiocephaly and bitemporal narrowing (c). The patient had mild bilateral shoulder abduction, mild limitation in elbow extension (d), limited knee flexion, left calcaneovalgus (e), and camptodactyly with limited extension of the metacarpophalangeal joints (f). g An X-ray shows the scoliotic posture with a straightening of the dorsolumbar spine.

Fig. 2

Sequence chromatograms showing the novel ECEL1 variant in a homozygous state in the patient (a), and in a heterozygous state in each of the parents (b, c).