Lymphedema–distichiasis syndrome is a medical condition associated with the FOXC2 gene.[2]: 849 People with this hereditary condition have a double row of eyelashes, which is called distichiasis, and a risk of swollen limbs due to problems in the lymphatic system.
Lymphedema-distichiasis is inherited in an autosomal dominant fashion.[3] It is estimated that only 1⁄4 of diagnosed individuals did not inherit the condition but rather acquired the syndrome via a de novo mutation.[4] Symptoms emerge between the life stages of puberty to early adulthood (around 30 years old).[citation needed] This is the result of a mutation in the FOXC2 gene.[5]
Mutationsedit
p.Y41F, a missense mutation, is also located in FOXC2 AD-1. p.Y41F is one of eleven mutations found in the FOXC2 gene. It was determined that of these 11 mutations, one was nonsense, six were missense, and four were frameshift mutations.[6]
Symptomsedit
The main symptoms of lymphedema-distichiasis are limb swelling and a double row of eyelashes. Symptoms that have been noted in some but not all cases include cysts, light sensitivity, cardiac defects, cleft palate, and eye problems such as astigmatism and cornea scarring.[5]
Syndrome diagnosis and managementedit
Currently, the most accurate test to determine if an individual is affected by lymphedema-distichiasis syndrome is done via Sanger sequencing, which includes whole genome analysis and single gene and multigene testing.[3][7] Sequenced DNA that exhibits mutations in the FOXC2 gene are considered confirmed clinical diagnoses. In addition to Sanger sequencing, Multiplex Ligation Probe Amplification (MLPA) can be used to determine if duplications and deletions in FOXC2 are present in an individual, making it a practical testing mechanism.[3] Lastly, diagnosis is sometimes determined without genome testing. If an individual exhibits multiple symptoms of lymphedema-distichiasis and has a medical history consistent with known lymphedema-distichiasis symptoms, then their diagnosis is confirmed via clinical evaluation.[8]
Lymphedema-distichiasis is a rare genetic disease, it is unknown how many individuals are affected and what the frequency of the condition is.[9] As a result, there are few syndrome management techniques: Symptoms of distichiasis can be minimized via eyelash plucking, electrolysis and other various treatments.[7] Limb swelling can be reduced using compression clothing and bandages. Lastly, rapid treatment of broken skin and cellulitis lessens severity of symptoms.[7]
^"Lymphedema-distichiasis syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 21 April 2019.
^James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN978-0-7216-2921-6.
^ abcRakhmanov, Yeltay; Maltese, Paolo Enrico; Paolacci, Stefano; Marinelli, Carla; Bertelli, Matteo (2018-09-01). "Genetic testing for lymphedema-distichiasis syndrome". The EuroBiotech Journal. 2 (s1): 13–15. doi:10.2478/ebtj-2018-0026. ISSN 2564-615X.
^Kolin, Talia (1991-07-01). "Hereditary Lymphedema and Distichiasis". Archives of Ophthalmology. 109 (7): 980–981. doi:10.1001/archopht.1991.01080070092042. ISSN 0003-9950. PMC6693661. PMID 2064580.
^ abFang, Jianming; Dagenais, Susan L.; Erickson, Robert P.; Arlt, Martin F.; Glynn, Michael W.; Gorski, Jerome L.; Seaver, Laurie H.; Glover, Thomas W. (December 2000). "Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome". The American Journal of Human Genetics. 67 (6): 1382–1388. doi:10.1086/316915. ISSN 0002-9297. PMC1287915. PMID 11078474.
^van Steensel, M.A.M.; Damstra, R.J.; Heitink, M.; Bladergroen, R.S.; Veraart, J.; Steijlen, Peter M.; van Geel, M. (December 2009). "Novel missense mutations in theFOXC2gene alter transcriptional activity". Human Mutation. 30 (12): E1002–E1009. doi:10.1002/humu.21127. ISSN 1059-7794. PMID 19760751.
^ abcMansour, Sahar; Brice, Glen W.; Jeffery, Steve; Mortimer, Peter (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Lymphedema-Distichiasis Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301630, retrieved 2020-04-15
^"Lymphedema-Distichiasis Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2020-04-15.
^Reference, Genetics Home. "Lymphedema-distichiasis syndrome". Genetics Home Reference. Retrieved 2020-04-15.
Referencesedit
Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child A, Murday V, Mortimer P, Barfoot R, Sigurdsson A, Edkins S, Sarfarazi M, Burnand K, Evans A, Nunan T, Stratton M, Jeffery S (1999). "A gene for lymphedema-distichiasis maps to 16q24.3". Am J Hum Genet. 65 (2): 427–32. doi:10.1086/302500. PMC1377941. PMID 10417285.
External linksedit
GeneReview/NIH/UW entry on Lymphedema-Distichiasis Syndrome
December 15, 2023
lymphedema, distichiasis, syndrome, medical, condition, associated, with, foxc2, gene, people, with, this, hereditary, condition, have, double, eyelashes, which, called, distichiasis, risk, swollen, limbs, problems, lymphatic, system, other, nameslymphedema, w. Lymphedema distichiasis syndrome is a medical condition associated with the FOXC2 gene 2 849 People with this hereditary condition have a double row of eyelashes which is called distichiasis and a risk of swollen limbs due to problems in the lymphatic system Lymphedema distichiasis syndromeOther namesLymphedema with distichiasis 1 Lymphedema distichiasis syndrome is inherited in an autosomal dominant manner Contents 1 Genetics 2 Mutations 3 Symptoms 4 Syndrome diagnosis and management 5 See also 6 Notes 7 References 8 External linksGenetics editLymphedema distichiasis is inherited in an autosomal dominant fashion 3 It is estimated that only 1 4 of diagnosed individuals did not inherit the condition but rather acquired the syndrome via a de novo mutation 4 Symptoms emerge between the life stages of puberty to early adulthood around 30 years old citation needed This is the result of a mutation in the FOXC2 gene 5 Mutations editp Y41F a missense mutation is also located in FOXC2 AD 1 p Y41F is one of eleven mutations found in the FOXC2 gene It was determined that of these 11 mutations one was nonsense six were missense and four were frameshift mutations 6 Symptoms editThe main symptoms of lymphedema distichiasis are limb swelling and a double row of eyelashes Symptoms that have been noted in some but not all cases include cysts light sensitivity cardiac defects cleft palate and eye problems such as astigmatism and cornea scarring 5 Syndrome diagnosis and management editCurrently the most accurate test to determine if an individual is affected by lymphedema distichiasis syndrome is done via Sanger sequencing which includes whole genome analysis and single gene and multigene testing 3 7 Sequenced DNA that exhibits mutations in the FOXC2 gene are considered confirmed clinical diagnoses In addition to Sanger sequencing Multiplex Ligation Probe Amplification MLPA can be used to determine if duplications and deletions in FOXC2 are present in an individual making it a practical testing mechanism 3 Lastly diagnosis is sometimes determined without genome testing If an individual exhibits multiple symptoms of lymphedema distichiasis and has a medical history consistent with known lymphedema distichiasis symptoms then their diagnosis is confirmed via clinical evaluation 8 Lymphedema distichiasis is a rare genetic disease it is unknown how many individuals are affected and what the frequency of the condition is 9 As a result there are few syndrome management techniques Symptoms of distichiasis can be minimized via eyelash plucking electrolysis and other various treatments 7 Limb swelling can be reduced using compression clothing and bandages Lastly rapid treatment of broken skin and cellulitis lessens severity of symptoms 7 See also editLymphedema Aagenaes syndrome List of cutaneous conditionsNotes edit Lymphedema distichiasis syndrome Genetic and Rare Diseases Information Center GARD an NCATS Program rarediseases info nih gov Retrieved 21 April 2019 James William D Berger Timothy G et al 2006 Andrews Diseases of the Skin clinical Dermatology Saunders Elsevier ISBN 978 0 7216 2921 6 a b c Rakhmanov Yeltay Maltese Paolo Enrico Paolacci Stefano Marinelli Carla Bertelli Matteo 2018 09 01 Genetic testing for lymphedema distichiasis syndrome The EuroBiotech Journal 2 s1 13 15 doi 10 2478 ebtj 2018 0026 ISSN 2564 615X Kolin Talia 1991 07 01 Hereditary Lymphedema and Distichiasis Archives of Ophthalmology 109 7 980 981 doi 10 1001 archopht 1991 01080070092042 ISSN 0003 9950 PMC 6693661 PMID 2064580 a b Fang Jianming Dagenais Susan L Erickson Robert P Arlt Martin F Glynn Michael W Gorski Jerome L Seaver Laurie H Glover Thomas W December 2000 Mutations in FOXC2 MFH 1 a Forkhead Family Transcription Factor Are Responsible for the Hereditary Lymphedema Distichiasis Syndrome The American Journal of Human Genetics 67 6 1382 1388 doi 10 1086 316915 ISSN 0002 9297 PMC 1287915 PMID 11078474 van Steensel M A M Damstra R J Heitink M Bladergroen R S Veraart J Steijlen Peter M van Geel M December 2009 Novel missense mutations in theFOXC2gene alter transcriptional activity Human Mutation 30 12 E1002 E1009 doi 10 1002 humu 21127 ISSN 1059 7794 PMID 19760751 a b c Mansour Sahar Brice Glen W Jeffery Steve Mortimer Peter 1993 Adam Margaret P Ardinger Holly H Pagon Roberta A Wallace Stephanie E eds Lymphedema Distichiasis Syndrome GeneReviews University of Washington Seattle PMID 20301630 retrieved 2020 04 15 Lymphedema Distichiasis Syndrome NORD National Organization for Rare Disorders Retrieved 2020 04 15 Reference Genetics Home Lymphedema distichiasis syndrome Genetics Home Reference Retrieved 2020 04 15 References editMangion J Rahman N Mansour S Brice G Rosbotham J Child A Murday V Mortimer P Barfoot R Sigurdsson A Edkins S Sarfarazi M Burnand K Evans A Nunan T Stratton M Jeffery S 1999 A gene for lymphedema distichiasis maps to 16q24 3 Am J Hum Genet 65 2 427 32 doi 10 1086 302500 PMC 1377941 PMID 10417285 External links editGeneReview NIH UW entry on Lymphedema Distichiasis Syndrome Retrieved from https en wikipedia org w index php title Lymphedema distichiasis syndrome amp oldid 1170968253, wikipedia, wiki, book, books, library,
