User:Brenleyjohnston/sandbox
 | This article was the subject of an educational assignment in 2014 Q3. Further details were available on the "Education Program:University of Western Ontario/Advanced Genetics (Fall 2014)" page, which is now unavailable on the wiki. |
My topic will be McKusick–Kaufman syndrome and I will be working independently.
Article:
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The Mckusick-Kaufman syndrome (MKS) is a very rare genetic condition affecting the development of the hands and feet, heart, and reproductive system. It is primarily characterized by hydrometrocolpos (HMC) in females and genital malformations including hypospadias, chordee and cryptorchidism in males.[1] Other common features include postaxial polydactyly (PAP) and congenital heart disease (CHD) in both males and females.[2]
History
[edit]MKS was first identified and described by Victor Almon McKusick in 1964. Robert L. Kaufman later provided a more comprehensive description of the condition in 1972.[2][3] MKS was initially described as HMC and PAP in the Amish population.[1]
Genetics
[edit]MKKS is the only gene currently known to be associated with MKS.[1] This gene provides the framework in making a protein important for fetal development of the limbs, heart, and reproductive system. The resulting protein structure reveals its role as a putative chaperonin, aiding in the transportation and reshaping of abnormal proteins to prevent cell damage. Genetic mutation of MKKS present on chromosome 20p12 alters its protein structure and function, thereby disrupting the development of various parts of the body before birth.[4][3]
Inheritance
[edit]This condition is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell of the affected individual are mutated.[1] One mutated gene copy originates from each parent.
Signs and Symptoms
[edit]Signs and symptoms of MKS greatly overlap with those of Bardet-Biedl syndrome (BBS).[2] It can therefore be difficult to differentiate between the two conditions from birth until early childhood, when particular features begin to become apparent.
Diagnosis and Treatment
[edit]Diagnosis of MKS is based on clinical findings. In females, the condition cannot be diagnosed until at least the age of five years and requires the absence of BBS features.[1] At least two of the characteristic triad of symptoms (HMC, PAP and CHD) must be present for sufficient diagnosis of MKS.
Management of MKS involves the treatment of manifestations by surgical repair, the prevention of secondary complications by using anesthetics during the neonatal period, and surveillance by monitoring blood pressure and renal function.[1] In addition, ongoing surveillance is important to monitor for symptoms of BBS.
Epidemiology
[edit]MKS is most common in the Amish, but can be found in all other populations. More than 90 individuals from various ethnic groups have been recorded with the MKS phenotype.[1] Within populations, the disorder is more frequent among females than males.
The condition was first seen in the Old Order Amish population, where it is estimated to affect 1 in every 10,000 people. About 1-3% of Amish in Lancaster County, Pennsylvania are carriers for one mutated copy of the MKKS gene and therefore do not display symptoms of the disorder.[1]
The true incidence of the syndrome remains unknown.
See also
[edit]References
[edit]- ^ a b c d e f g h Slavotinek, Anne M (10 September 2002). "McKusick-Kaufman syndrome". GeneReviews at NCBI. Retrieved 7 November 2014.
- ^ a b c Slavotinek AM, Biesecker LG (November 2000). "Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review". Am. J. Med. Genet. 95 (3): 208–215. doi:10.1002/1096-8628(20001127)95:3<208::AID-AJMG5>3.0.CO;2-J. PMID 11102925.
- ^ a b Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG (April 1998). "Genetic and physical mapping of the McKusick-Kaufman syndrome". Hum. Mol. Genet. 7 (3): 475–481. doi:10.1093/hmg/7.3.475. PMID 9467007.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Sonmez K, Turkyilmaz Z, Karabulut R, Turan O, Onal EE, Aslan D, Basaklar AC (2011). "Our experience with McKusick-Kaufman syndrome patients". Bratisl. Med. J. 112 (9): 524–526. PMID 21954533.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
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