Woodhouse–Sakati syndrome
| Woodhouse–Sakati syndrome |
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Woodhouse–Sakati syndrome, also called hypogonadism, alopecia, diabetes mellitus, intellectual disability and extrapyramidal syndrome,[1] is a rare autosomal recessive[2] multisystem disorder which causes malformations throughout the body, and deficiencies affecting the endocrine system.[3]
Characteristics
The syndrome is characterized by alopecia, hypogonadism, hypothyroidism, hearing loss, intellectual disability and diabetes mellitus. Electrocardiogram anomalies have also been reported.[2]
Cause and Genetics
Mutations in the C2ORF37 gene, located at human chromosome 2q22.3-q35, are believed to be the cause of Woodhouse–Sakati syndrome.[1][4] The disorder is inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is located on an autosome (chromosome 2 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
References
- ^ a b Online Mendelian Inheritance in Man (OMIM): 241080
- ^ a b c Medica I, Sepcic J, Peterlin B (2007). "Woodhouse-Sakati syndrome: case report and symptoms review". Genet Couns. 18 (2): 227–231. PMID 17710875.
- ^ Woodhouse NJ, Sakati NA (1983). "A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities". J. Med. Genet. 20 (3): 216–9. doi:10.1136/jmg.20.3.216. PMC 1049050. PMID 6876115.
- ^ Online Mendelian Inheritance in Man (OMIM): 612515
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