Abstract：
:Disease-associated variants in the human genome are continually being identified using DNA sequencing technologies that are especially effective for Mendelian disorders. Here we sequenced whole genome to high coverage (>30×) of 6 members of a 7-generation family with dwarfism from a consanguineous tribe in Pakistan to determine the causal variant(s). We identified a missense variant rs111033552 (c.2011T>C [p.Ser671Pro]) located in COL10A1 (encodes the alpha chain of type X collagen) as the most likely contributor to the dwarfism. We further confirmed the variant in 22 family members using Sanger sequencing. All affected individuals are heterozygous for the missense mutation rs111033552 and no individual homozygous was observed. Moreover, the mutation was absent in 69,985 individuals representing >150 global populations. Taking advantage of whole-genome sequencing data, we also examined other variant forms, including copy number variation and insertion/deletion, but failed to identify such variants enriched in the affected individuals. Thus rs111033552 had priority for linkage with dwarfism.
journal_name
Heredity (Edinb)journal_title
Heredityauthors
Zhang C,Liu J,Iqbal F,Lu Y,Mustafa S,Bukhari F,Lou H,Fu R,Wu Z,Yang X,Bukhari I,Aslam M,Xu Sdoi
10.1038/s41437-017-0021-6subject
Has Abstractpub_date
2018-01-01 00:00:00pages
83-89issue
1eissn
0018-067Xissn
1365-2540pii
10.1038/s41437-017-0021-6journal_volume
120pub_type
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