TAR syndrome: Difference between revisions
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{{Infobox medical condition (new) |
{{Infobox medical condition (new) |
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| name = TAR |
| name = TAR syndrome |
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| synonyms = Thrombocytopenia with absent radius syndrome |
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'''TAR |
'''TAR syndrome''' ([[thrombocytopenia]] with [[absent radius]]) is a rare [[genetic disorder]] that is characterized by the absence of the [[Radius (bone)|radius bone]] in the forearm and a dramatically reduced [[platelet]] count.<ref name="Toriello_2016">{{cite book | vauthors = Toriello HV | veditors = Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Toriello HV | chapter = Thrombocytopenia Absent Radius Syndrome. | title = GeneReviews [Internet] | date = December 2016 | pmid = 20301781 | chapter-url = https://www.ncbi.nlm.nih.gov/books/NBK23758/ | publisher = University of Washington, Seattle }}</ref> It is associated with cardiac defects, dysmorphic features, and petechiae. It involves a 1q21 deletion with RMB8A variant on other allele. |
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==Signs and symptoms== |
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==Presentation== |
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* Presents with symptoms of [[thrombocytopenia]], or a lowered platelet count, leading to [[bruising]] and potentially life-threatening [[hemorrhage]].<ref>{{cite journal | vauthors = Manukjan G, Bösing H, Schmugge M, Strauß G, Schulze H | title = Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome | journal = British Journal of Haematology | volume = 179 | issue = 4 | pages = 606–617 | date = November 2017 | pmid = 28857120 | doi = 10.1111/bjh.14913 | department = primary | doi-access = free }}</ref> |
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* Absence of the radius bone in the forearm with preservation of the thumb{{Citation needed|date=October 2020}}. |
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Other common links between people with TAR syndrome include [[anemia]], [[heart]] problems, [[kidney]] problems, knee joint problems, and frequently [[milk allergy]]. Different cases with [[leukemia]] in patients with TAR are described in.{{clarify|date=July 2019}}<ref>{{cite journal | vauthors = Jameson-Lee M, Chen K, Ritchie E, Shore T, Al-Khattab O, Gergis U | title = Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature | journal = Hematology/Oncology and Stem Cell Therapy | volume = 11 | issue = 4 | pages = 245–247 | date = February 2017 | pmid = 28259746 | doi = 10.1016/j.hemonc.2017.02.001 | department = primary | doi-access = free }}</ref> |
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Other common links between people with TAR seem to include [[anemia]], [[heart]] problems, [[kidney]] problems, knee joint problems, frequently [[lactose intolerance]]. |
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Different cases with [[leukemia]] in patients with TAR are described in.<ref>{{Cite journal|last=Jameson-Lee|first=Maximilian|last2=Chen|first2=Katherine|last3=Ritchie|first3=Ellen|last4=Shore|first4=Tsiporah|last5=Al-Khattab|first5=Omar|last6=Gergis|first6=Usama|title=Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature|url=http://linkinghub.elsevier.com/retrieve/pii/S1658387617300080|journal=Hematology/Oncology and Stem Cell Therapy|doi=10.1016/j.hemonc.2017.02.001|year=2017}}</ref> |
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[[File:Chromosome 1 to 1q21.1.jpg|thumb| |
[[File:Chromosome 1 to 1q21.1.jpg|thumb|upright=1.5|The [[Locus (genetics)|cytogenetic location]] (pink box) of the [[RBM8A]] gene 0lon 1q21.1]] |
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This condition requires mutations in both chromosomes{{Clarify|reason=unclear reference (which two chromosomes?)|date=October 2020}}.<ref name=Brodie2019>Brodie SA, Rodriguez-Aulet JP, Giri N, Dai J, Steinberg M, Waterfall JP, Roberson D, Ballew BJ, Zhou W, Anzick SL, Jiang Y, Wang Y, Zhu YJ, Meltzer PS, Boland J, Alter BP, Savage SA (2019) 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes. Cold Spring Harb Mol Case Stud 5(6)</ref> The first mutation is inheritance of a 1q21.1 deletion and the second is in the remaining in the [[RBM8A]] gene. |
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A 2007 research article identified a region of [[chromosome 1]], 1q21.1, containing 11 [[genes]] (including [[Hemojuvelin|HFE2]], [[LIX1L]], [[PIAS3]], [[ANKRD35]], [[ITGA10]], [[RBM8A]], [[PEX11B]], [[POLR3GL]], [[TXNIP]], and [[GNRR2]]), that is heterozygously deleted in thirty of thirty patients with TAR.<ref name=":0">{{cite journal |vauthors=Klopocki E, Schulze H, Strauss G, etal |title=Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome |journal=Am. J. Hum. Genet. |volume=80 |issue=2 |pages=232–40 |year=2007 |pmid=17236129 |pmc=1785342 |doi=10.1086/510919 |url=}}</ref> This deletion was also found in 32% of unaffected family members, indicating that the condition requires an additional modifier. |
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Approximately 95% of TAR patients have one non-functional copy of the RBM8A gene.<ref name="pmid23602329">{{cite journal | vauthors = Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C | title = New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome | journal = Current Opinion in Genetics & Development | volume = 23 | issue = 3 | pages = 316–23 | date = June 2013 | pmid = 23602329 | doi = 10.1016/j.gde.2013.02.015 | department = review | doi-access = free }}</ref><ref name="pmid27981927">{{cite journal | vauthors = Al-Qattan MM | title = The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome | journal = Journal of the College of Physicians and Surgeons Pakistan | volume = 26 | issue = 11 | pages = 912–916 | date = November 2016 | pmid = 27981927 | url = https://www.jcpsp.pk/archive/2016/Nov2016/10.pdf | department = review }}</ref> |
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This modifier was discovered in 2012. A study identified two separate [[single-nucleotide polymorphism]] (SNP) in ''[[RBM8A]]''. These abnormalities resulting in reduced Y14 production that were responsible for all but two of the cases studied, one a [[Untranslated region|5'UTR]] SNP with a frequency of 3.05% and the other an intronic SNP with a frequency of 0.42% in 7504 healthy individuals of the Cambridge BioResource. The microdeletion was not found in 5919 controls of the Wellcome Trust Case Control Consortium.<ref name=":1" /> |
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==Diagnosis== |
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{{Empty section|date=December 2017}} |
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==Treatment== |
==Treatment== |
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Treatments range from platelet transfusions to surgery aimed at either centralizing the hand over the ulna to improve functionality of the hand or aimed at 'normalizing' the appearance of the arm, which is much shorter and 'clubbed |
Treatments range from platelet transfusions<ref name="Toriello_2016" /> to surgery aimed at either centralizing the hand over the ulna to improve functionality of the hand or aimed at 'normalizing' the appearance of the arm, which is much shorter and 'clubbed'.{{Citation needed|date=October 2020}} There is some controversy surrounding the role of surgery{{Citation needed|date=October 2020}}. The infant mortality rate has been curbed by new technology, including platelet transfusions, which can even be performed [[Uterus|in utero]]{{Citation needed|date=October 2020}}. The critical period is the first and sometimes second year of life{{Citation needed|date=October 2020}}. For most people with TAR, platelet counts improve as they grow out of childhood.{{citation needed|date=July 2020}} |
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==Epidemiology== |
==Epidemiology== |
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The incidence is 0.42 per 100,000 live births. |
The incidence is 0.42 per 100,000 live births{{Citation needed|date=October 2020}}. |
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== History == |
== History == |
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In 1929 Greenwald and Sherman described the first patient with TAR Syndrome.<ref>{{Cite journal| |
<nowiki>In 1929 Greenwald and Sherman{{ described the first patient with TAR Syndrome.</nowiki><ref>{{Cite journal| vauthors = Greenwald HM, Sherman I |date=1928 |title=Congenital essential thrombocytopenia|journal=Am J Dis Child |volume=38 |issue=6 |pages=1245 |doi=10.1001/archpedi.1929.01930120123011 | department = primary }}</ref> 40 years later Hall collected 40 cases and introduced the name "Thrombocytopenia with absent radius".<ref>{{cite journal | vauthors = Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA | s2cid = 23832858 | title = Thrombocytopenia with absent radius (TAR) | journal = Medicine | volume = 48 | issue = 6 | pages = 411–39 | date = November 1969 | pmid = 4951233 | doi = 10.1097/00005792-196948060-00001 | department = primary | doi-access = free }}</ref> In 1988 Hedberg published an article with 100 cases.<ref>{{cite journal | vauthors = Hedberg VA, Lipton JM | title = Thrombocytopenia with absent radii. A review of 100 cases | journal = The American Journal of Pediatric Hematology/Oncology | volume = 10 | issue = 1 | pages = 51–64 | year = 1988 | pmid = 3056062 | department = review | doi = 10.1097/00043426-198821000-00010 }}</ref> |
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The bigenetic background was described in 2007<ref name=":0" /> and 2012.<ref name=":1">{{cite journal|year=2012|title=Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome|journal=Nat. Genet.|volume=44|pages=435–9, S1–2|doi=10.1038/ng.1083|pmid=22366785|PMC=3428915|vauthors=Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CA, Sambrook JG, Smith K, Stemple DL, Strauss G, Thys C, van Geet C, Newbury-Ecob R, Ouwehand WH, Ghevaert C}}</ref> |
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{{reflist}} |
{{reflist}} |
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==Further reading== |
== Further reading == |
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{{refbegin}} |
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* {{cite journal|last=Goldfarb|first=Charles A.|author2=Wall, Lindley |author3=Manske, Paul R. |title=Radial Longitudinal Deficiency: The Incidence of Associated Medical and Musculoskeletal Conditions|journal=The Journal of Hand Surgery|volume=31|issue=7|pages=1176–1182|doi=10.1016/j.jhsa.2006.05.012|pmid=16945723|date=Sep 2006}} |
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* {{cite journal | vauthors = Goldfarb CA, Wall L, Manske PR | title = Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions | journal = The Journal of Hand Surgery | volume = 31 | issue = 7 | pages = 1176–82 | date = September 2006 | pmid = 16945723 | doi = 10.1016/j.jhsa.2006.05.012 | department = primary }} |
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{{refend}} |
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== External links == |
== External links == |
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{{Medical resources |
{{Medical resources |
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| DiseasesDB = 29769 |
| DiseasesDB = 29769 |
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| ICD10 = {{ICD10|Q|87|2|q|80}} |
| ICD10 = {{ICD10|Q|87|2|q|80}} |
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| ICD9 = {{ICD9|287.33}} |
| ICD9 = {{ICD9|287.33}} |
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| ICDO = |
| ICDO = |
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| OMIM = 274000 |
| OMIM = 274000 |
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| MedlinePlus = |
| MedlinePlus = |
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| MeshID = |
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|ICD11={{ICD11|LD2F.1Y}}}} |
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{{Multiple abnormalities}} |
{{Multiple abnormalities}} |
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{{Chromosomal abnormalities}} |
{{Chromosomal abnormalities}} |
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Latest revision as of 15:17, 15 January 2024
 | This article may be confusing or unclear to readers. (October 2020) |
| TAR syndrome | |
|---|---|
| Other names | Thrombocytopenia with absent radius syndrome |
| Specialty | Medical genetics  |
TAR syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count.[1] It is associated with cardiac defects, dysmorphic features, and petechiae. It involves a 1q21 deletion with RMB8A variant on other allele.
Signs and symptoms
[edit]- Presents with symptoms of thrombocytopenia, or a lowered platelet count, leading to bruising and potentially life-threatening hemorrhage.[2]
- Absence of the radius bone in the forearm with preservation of the thumb[citation needed].
Other common links between people with TAR syndrome include anemia, heart problems, kidney problems, knee joint problems, and frequently milk allergy. Different cases with leukemia in patients with TAR are described in.[clarification needed][3]
Genetics
[edit]
This condition requires mutations in both chromosomes[clarification needed].[4] The first mutation is inheritance of a 1q21.1 deletion and the second is in the remaining in the RBM8A gene.
Approximately 95% of TAR patients have one non-functional copy of the RBM8A gene.[5][6]
Treatment
[edit]Treatments range from platelet transfusions[1] to surgery aimed at either centralizing the hand over the ulna to improve functionality of the hand or aimed at 'normalizing' the appearance of the arm, which is much shorter and 'clubbed'.[citation needed] There is some controversy surrounding the role of surgery[citation needed]. The infant mortality rate has been curbed by new technology, including platelet transfusions, which can even be performed in utero[citation needed]. The critical period is the first and sometimes second year of life[citation needed]. For most people with TAR, platelet counts improve as they grow out of childhood.[citation needed]
Epidemiology
[edit]The incidence is 0.42 per 100,000 live births[citation needed].
History
[edit]In 1929 Greenwald and Sherman{{ described the first patient with TAR Syndrome.[7] 40 years later Hall collected 40 cases and introduced the name "Thrombocytopenia with absent radius".[8] In 1988 Hedberg published an article with 100 cases.[9]
References
[edit]- ^ a b Toriello HV (December 2016). "Thrombocytopenia Absent Radius Syndrome.". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Toriello HV (eds.). GeneReviews [Internet]. University of Washington, Seattle. PMID 20301781.
- ^ Manukjan G, Bösing H, Schmugge M, Strauß G, Schulze H (November 2017). "Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome". primary. British Journal of Haematology. 179 (4): 606–617. doi:10.1111/bjh.14913. PMID 28857120.
- ^ Jameson-Lee M, Chen K, Ritchie E, Shore T, Al-Khattab O, Gergis U (February 2017). "Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature". primary. Hematology/Oncology and Stem Cell Therapy. 11 (4): 245–247. doi:10.1016/j.hemonc.2017.02.001. PMID 28259746.
- ^ Brodie SA, Rodriguez-Aulet JP, Giri N, Dai J, Steinberg M, Waterfall JP, Roberson D, Ballew BJ, Zhou W, Anzick SL, Jiang Y, Wang Y, Zhu YJ, Meltzer PS, Boland J, Alter BP, Savage SA (2019) 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes. Cold Spring Harb Mol Case Stud 5(6)
- ^ Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C (June 2013). "New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome". review. Current Opinion in Genetics & Development. 23 (3): 316–23. doi:10.1016/j.gde.2013.02.015. PMID 23602329.
- ^ Al-Qattan MM (November 2016). "The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome" (PDF). review. Journal of the College of Physicians and Surgeons Pakistan. 26 (11): 912–916. PMID 27981927.
- ^ Greenwald HM, Sherman I (1928). "Congenital essential thrombocytopenia". primary. Am J Dis Child. 38 (6): 1245. doi:10.1001/archpedi.1929.01930120123011.
- ^ Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA (November 1969). "Thrombocytopenia with absent radius (TAR)". primary. Medicine. 48 (6): 411–39. doi:10.1097/00005792-196948060-00001. PMID 4951233. S2CID 23832858.
- ^ Hedberg VA, Lipton JM (1988). "Thrombocytopenia with absent radii. A review of 100 cases". review. The American Journal of Pediatric Hematology/Oncology. 10 (1): 51–64. doi:10.1097/00043426-198821000-00010. PMID 3056062.
Further reading
[edit]- Goldfarb CA, Wall L, Manske PR (September 2006). "Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions". primary. The Journal of Hand Surgery. 31 (7): 1176–82. doi:10.1016/j.jhsa.2006.05.012. PMID 16945723.