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A novel ECEL1 variant associated with a congenital contracture disorder
Author(s):
1. Humera Manzoor: University of the Punjab, Quaid-i-Azam Campus, Lahore, Pakistan; University of Luebeck, Lübeck, Germany; University of Health Sciences, Lahore, Pakistan.
2. Norbert Brüggemann: University of Luebeck, Lübeck, Germany
3. Hafiz Muhammad Jafar Hussain: University of the Punjab, Quaid-i-Azam Campus, Lahore, Pakistan
4. Tobias Bäumer: University of Luebeck, Lübeck, Germany
5. Frauke Hinrichs: University of Luebeck, Lübeck, Germany
6. Muhammad Wajid: University of Okara, Okara, Pakistan
7. Alexander Münchau: University of Luebeck, Lübeck, Germany
8. Katja Lohmann: University of Luebeck, Lübeck, Germany
9. Sadaf Naz: University of the Punjab, Quaid-i-Azam Campus, Lahore, Pakistan
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 familywith clinical features of distal arthrogryposis type 5D and extends the genotype spectrum of the disorder.
Page(s): 391-395
Published: Journal: Pakistan Journal of Zoology, Volume: 55, Issue: 1, Year: 2023
Keywords:
Pakistan , Exome sequencing , ECEL1 , Distal arthrogryposis , type 5D
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