Laurence–Moon syndrome
| Laurence–Moon syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q87.8 |
| ICD-9-CM | 759.89 |
| OMIM | 245800 |
| DiseasesDB | 30072 |
| MeSH | D007849 |
| Orphanet | 2377 |
Laurence–Moon syndrome (LMS) is a rare autosomal recessive[1] genetic disorder associated with retinitis pigmentosa, extra digits, spastic paraplegia, hypogonadism and mental disabilities.
Genetics
LMS is inherited in an autosomal recessive manner.[1] This means the defective gene responsible for the disorder is located on 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.
Eponym and nomenclature
It is named after the physicians John Zachariah Laurence and Robert Charles Moon who provided the first formal description of the condition in a paper published in 1866.[2][3]
In the past, LMS has also been referred to as Laurence–Moon–Bardet–Biedl or Laurence–Moon–Biedl–Bardet syndrome, but Bardet–Biedl syndrome (BBS) is now usually recognized as a separate entity.[4]
Recent advances in genetic typing of the phenotypically-wide variation in patients clinically diagnosed with either Bardet-Biedl Syndrome (BBS) or Laurence-Moon Syndrome (LMS) have questioned whether LMS and BBS are genetically distinct. For example, a 1999 epidemiological study of BBS and LMS reported that "BBS proteins interact and are necessary for the development of many organs." "Two patients [in the study] were diagnosed clinically as LMS but both had mutations in a BBS gene. The features in this population do not support the notion that BBS and LMS are distinct."[5] A more recent 2005 paper also suggests that the two conditions are not distinct.[6]
References
- 1 2 Farag, T. I.; Teebi, A. H. W. S. (Feb 1988). "Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population". Clinical genetics. 33 (2): 78–82. doi:10.1111/j.1399-0004.1988.tb03414.x. PMID 3359670.
- ↑ synd/3746 at Who Named It?
- ↑ Laurence J.Z., Moon R.C.: Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development, Ophthal. Rev. 1866, 2:32–41
- ↑ Online Mendelian Inheritance in Man (OMIM) 245800
- ↑ Beales P, Elcioglu N, Woolf A, Parker D, Flinter F (1 June 1999). "New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey". J. Med. Genet. 36 (6): 437–46. doi:10.1136/jmg.36.6.437. PMC 1734378
. PMID 10874630. - ↑ Moore S, Green J, Fan Y, et al. (2005). "Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study". Am. J. Med. Genet. A. 132 (4): 352–60. doi:10.1002/ajmg.a.30406. PMC 3295827. PMID 15637713.