2016
DOI: 10.1111/cge.12700
|View full text |Cite
|
Sign up to set email alerts
|

Exome sequencing revealed a novel biallelic deletion in theDCAF17gene underlying Woodhouse Sakati syndrome

Abstract: Woodhouse Sakati syndrome (WSS, MIM 241080) is a rare autosomal recessive genetic condition characterized by alopecia, hypogonadism, hearing impairment, diabetes mellitus, learning disabilities and extrapydamidal manifestations. Sequence variants in the gene DCAF17, encoding nucleolar substrate receptor, were identified as the underlying cause of inherited WSS. Considerable phenotypic heterogeneity exists in WSS with regard to severity, organs involvement and age of onset, both in inter-familial and intra-fami… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
1

Citation Types

4
39
1

Year Published

2018
2018
2021
2021

Publication Types

Select...
6
1

Relationship

1
6

Authors

Journals

citations
Cited by 24 publications
(44 citation statements)
references
References 21 publications
4
39
1
Order By: Relevance
“…Previously, our group has reported two homozygous sequence variants in the DCAF17 (NM_025000) including a deletion (c.270delA) and a splice site (c.321+1G>A) in families segregating WSS phenotypes . In the present investigation, we have identified another mutation (p.M1?)…”
Section: Introductionsupporting
confidence: 53%
See 3 more Smart Citations
“…Previously, our group has reported two homozygous sequence variants in the DCAF17 (NM_025000) including a deletion (c.270delA) and a splice site (c.321+1G>A) in families segregating WSS phenotypes . In the present investigation, we have identified another mutation (p.M1?)…”
Section: Introductionsupporting
confidence: 53%
“…However, the next closest in frame ATG is at codon 88, thus even if this ATG served as an initiation codon, start of translation at this site would cause the deletion of 87 residues from the N‐terminus of the mature DCAF17 polypeptide and probably such a protein would be functionless. Previously, 12 mutations in the DCAF17 were reported in various ethnic groups, including Arabic, Indian, Pakistani, Turkish, Italian and French . These include three nonsense (p.S114*, p.W129*, p.W302*), five deletion [(p.A17Gfs*43, p.K90Nfs*8, p.A147Hfs*9, p.N413Tfs*21, 59–7_499del (p.?)]…”
Section: Discussionmentioning
confidence: 99%
See 2 more Smart Citations
“…So far, 10 homozygous variants and 2 compound heterozygous variants have been identified in the DCAF17 gene. [2][3][4][5] Like WSS, female/male hypogonadism due to elevated/reduced serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) is also seen in other rare inherited syndromes and include Kallmann syndrome (MIM 308750), Richards-Rundle syndrome (MIM 245100), Perrault syndrome 5 (MIM 616138), and mitochondrial DNA depletion syndrome (MIM 271245). Here, we evaluated 2 families from different ethnic populations whose members presented with primary amenorrhea and normal karyotype, and samples were referred for genomic analysis.…”
mentioning
confidence: 99%