Abstract:
:Dyggve melchior clausen syndrome (DMC, MIM 223800) is a very rare autosomal recessive form of skeletal dysplasia associated with various degrees of mental retardation. It is characterized by a progressive spondyloepimetaphyseal dysplasia (SEMD) with disproportionate short stature, generalized platyspondyly and lacy iliac crest. Here, we report characterization of large consanguineous family segregating DMC in autosomal recessive manner. Scanning SNP-based human genome identified a 5.3 Mb homozygous region on chromosome 18q21.1-q21.2. Sanger sequencing of the DYM gene, located in the homozygous region, revealed a novel homozygous nonsense variant [c.59 T > A; p.(Leu20*)] in affected members of the family. Analysis of the mRNA, extracted from hair follicles of an affected individual, suggested non-sense mediated decay (NMD) of the truncated transcript. This is the first nonsense and fourth loss of function variant in the DYM gene, causing DMC, reported in the Pakistani population. This study not only extended spectrum of the mutations in the DYM gene but will also facilitate diagnosis of similar other cases in Pakistani population.
journal_name
Mol Biol Repjournal_title
Molecular biology reportsauthors
Abdullah,Shah PW,Nawaz S,Hussain S,Ullah A,Basit S,Ahmad Wdoi
10.1007/s11033-020-05774-zsubject
Has Abstractpub_date
2020-09-01 00:00:00pages
7083-7088issue
9eissn
0301-4851issn
1573-4978pii
10.1007/s11033-020-05774-zjournal_volume
47pub_type
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