A Novel ECEL1 Variant Associated with a Congenital Contracture Disorder
A Novel ECEL1 Variant Associated with a Congenital Contracture Disorder
Humera Manzoor1,2,5 Norbert Brüggemann2,3, Hafiz Muhammad Jafar Hussain1, Tobias Bäumer2, Frauke Hinrichs2, Muhammad Wajid4, Alexander Münchau2, Katja Lohmann2* and Sadaf Naz1*
ABSTRACT
A consanguineous Pakistani family with three affected siblings was investigated to determine the genetic diagnosis of an inherited contracture disorder. Whole-exome sequencing was performed for four participants. Variants were filtered based on homozygosity in the three patients and heterozygosity in the obligate carrier (mother), predicted effect of variants on the encoded protein, and their frequencies in public databases. Sanger sequencing was performed to explore the segregation of the variant with the phenotype. All patients had congenital limb contractures. These included camptodactyly of hands and feet, ptosis, adducted thumb and clubfoot morphology. A novel homozygous missense variant in ECEL1 c.2051A>G, p.(Tyr684Cys) was identified in all three patients. The variant was absent from the DNA of 500 ethnically matched control samples as well as from all public databases. In conclusion, this study reports a family with clinical features of distal arthrogryposis type 5D and extends the genotype spectrum of the disorder.
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