| Autor: |
Noor Ul, Ain, Marta, Baroncelli, Alice, Costantini, Tayyaba, Ishaq, Fulya, Taylan, Ola, Nilsson, Outi, Mäkitie, Sadaf, Naz |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Journal of medical genetics. 58(5) |
| ISSN: |
1468-6244 |
| Popis: |
Studies exploring molecular mechanisms underlying congenital skeletal disorders have revealed novel regulators of skeletal homeostasis and shown protein glycosylation to play an important role.To identify the genetic cause of rhizomelic skeletal dysplasia in a consanguineous Pakistani family.Clinical investigations were carried out for four affected individuals in the recruited family. Whole genome sequencing (WGS) was completed using DNA from two affected and two unaffected individuals from the family. Sequencing data were processed, filtered and analysed. In silico analyses were performed to predict the effects of the candidate variant on the protein structure and function. Small interfering RNAs (siRNAs) were used to study the effect ofThe patients presented with short stature due to extreme shortening of the proximal segments of the limbs. Radiographs of one individual showed hip dysplasia and severe platyspondyly. WGS data analyses identified a homozygous missense variant c.226GA; p.(Glu76Lys) inThis study describes a novel severe skeletal dysplasia associated with a biallelic, variant in |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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