Avtor/Urednik		Alazami, Anas M; Al-Saif, Amr; Al-Semari, Abdulaziz; Bohlega, Saeed; Zlitni, Soumaya; Alzahrani, Fatema; Bavi, Prashant; Kaya, Namik; Colak, Dilek; Peterlin, Borut
Naslov		Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
Tip		članek
Vir		Am J Hum Genet
Vol. in št.		Letnik 83, št. 6
Leto izdaje		2008
Obseg		str. 684-91
Jezik		eng
Abstrakt		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.
Deskriptorji		CHROMOSOMES, HUMAN, PAIR 2 MUTATION OPEN READING FRAMES ALOPECIA AMINO ACID SEQUENCE BASAL GANGLIA DISEASES BASE SEQUENCE CONSERVED SEQUENCE DIABETES MELLITUS GENES, RECESSIVE GENOME, HUMAN HAPLOTYPES HOMOZYGOTE HYPOGONADISM LINKAGE (GENETICS) LOD SCORE MENTAL RETARDATION MOLECULAR SEQUENCE DATA NUCLEAR PROTEINS PEDIGREE SEQUENCE ANALYSIS, DNA SEQUENCE DELETION SYNDROME