Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

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...

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Bibliographic Details
Published in:American journal of human genetics 2008-12, Vol.83 (6), p.684-691
Main Authors: Alazami, Anas M., Al-Saif, Amr, Al-Semari, Abdulaziz, Bohlega, Saeed, Zlitni, Soumaya, Alzahrani, Fatema, Bavi, Prashant, Kaya, Namik, Colak, Dilek, Khalak, Hanif, Baltus, Andy, Peterlin, Borut, Danda, Sumita, Bhatia, Kailash P., Schneider, Susanne A., Sakati, Nadia, Walsh, Christopher A., Al-Mohanna, Futwan, Meyer, Brian, Alkuraya, Fowzan S.
Format: Article
Language:English
Subjects:
Alopecia - genetics
Amino Acid Sequence
Basal Ganglia Diseases - genetics
Base Sequence - genetics
Cells
Chromosomes, Human, Pair 2
Conserved Sequence
Diabetes Mellitus - genetics
Female
Genes
Genes, Recessive
Genetic Linkage
Genome, Human
Genotype & phenotype
Haplotypes
Homozygote
Humans
Hypogonadism - genetics
Intellectual Disability - genetics
Lod Score
Male
Medical disorders
Molecular Sequence Data
Mutation
Nuclear Proteins - chemistry
Nuclear Proteins - genetics
Nuclear Proteins - metabolism
Open Reading Frames
Pedigree
Physical Chromosome Mapping
Proteins
Sequence Analysis, DNA
Sequence Deletion
Syndrome
Ubiquitin-Protein Ligase Complexes
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Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1016/j.ajhg.2008.10.018