Abstract |
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have identified a founder mutation consisting of a single base-pair deletion in C2orf37 in eight families of Saudi origin. Three other loss-of-function mutations were subsequently discovered in patients of different ethnicities. The gene encodes a nucleolar protein of unknown function, and the cellular phenotype observed in patient lymphoblasts implicates a role for the nucleolus in the pathogenesis of this disease. Our findings expand the list of human disorders linked to the nucleolus and further highlight the developmental and/or maintenance functions of this organelle.
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Authors | Anas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, Saeed Bohlega, Soumaya Zlitni, Fatema Alzahrani, Prashant Bavi, Namik Kaya, Dilek Colak, Hanif Khalak, Andy Baltus, Borut Peterlin, Sumita Danda, Kailash P Bhatia, Susanne A Schneider, Nadia Sakati, Christopher A Walsh, Futwan Al-Mohanna, Brian Meyer, Fowzan S Alkuraya |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 83
Issue 6
Pg. 684-91
(Dec 2008)
ISSN: 1537-6605 [Electronic] United States |
PMID | 19026396
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DCAF17 protein, human
- Nuclear Proteins
- Ubiquitin-Protein Ligase Complexes
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Topics |
- Alopecia
(genetics)
- Amino Acid Sequence
- Basal Ganglia Diseases
(genetics)
- Base Sequence
(genetics)
- Chromosomes, Human, Pair 2
- Conserved Sequence
- Diabetes Mellitus
(genetics)
- Female
- Genes, Recessive
- Genetic Linkage
- Genome, Human
- Haplotypes
- Homozygote
- Humans
- Hypogonadism
(genetics)
- Intellectual Disability
(genetics)
- Lod Score
- Male
- Molecular Sequence Data
- Mutation
- Nuclear Proteins
(chemistry, genetics, metabolism)
- Open Reading Frames
- Pedigree
- Physical Chromosome Mapping
- Sequence Analysis, DNA
- Sequence Deletion
- Syndrome
- Ubiquitin-Protein Ligase Complexes
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