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Contiguous gene syndrome

MedGen UID:
383697
•Concept ID:
C1855496
•
Disease or Syndrome; Finding
HPO: HP:0001466

Definition

A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes [from HPO]

Professional guidelines

PubMed

Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype-Phenotype Correlation.
Gavril EC, Popescu R, Nucă I, Ciobanu CG, Butnariu LI, Rusu C, Pânzaru MC
Genes (Basel) 2022 Nov 10;13(11) doi: 10.3390/genes13112083. PMID: 36360320Free PMC Article
Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.
Garcia-Rodriguez R, Rodriguez-Rodriguez R, Garcia-Delgado R, Romero-Requejo A, Medina-Castellano M, Garcia Cruz L, Santana Rodriguez A, Garcia-Hernandez JA
J Matern Fetal Neonatal Med 2022 Jun;35(11):2162-2165. Epub 2020 Jun 4 doi: 10.1080/14767058.2020.1774541. PMID: 32495660
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.
Xing Y, Holder JL Jr, Liu Y, Yuan M, Sun Q, Qu X, Deng L, Zhou J, Yang Y, Guo M, Cheung SW, Sun L
Arch Gynecol Obstet 2018 Aug;298(2):289-295. Epub 2018 May 28 doi: 10.1007/s00404-018-4798-1. PMID: 29808250

Recent clinical studies

Etiology

Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype-Phenotype Correlation.
Gavril EC, Popescu R, Nucă I, Ciobanu CG, Butnariu LI, Rusu C, Pânzaru MC
Genes (Basel) 2022 Nov 10;13(11) doi: 10.3390/genes13112083. PMID: 36360320Free PMC Article
Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases.
Shimozawa N
Brain Dev 2011 Oct;33(9):770-6. Epub 2011 Apr 5 doi: 10.1016/j.braindev.2011.03.004. PMID: 21470807
The Greig cephalopolysyndactyly syndrome.
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Molecular and clinical aspects of peroxisomal diseases.
Shimozawa N
J Inherit Metab Dis 2007 Apr;30(2):193-7. Epub 2007 Mar 8 doi: 10.1007/s10545-007-0516-z. PMID: 17347916
Old syndromes and new cytogenetics.
Punnett HH, Zakai EH
Dev Med Child Neurol 1990 Sep;32(9):824-31. doi: 10.1111/j.1469-8749.1990.tb08489.x. PMID: 2227145

Diagnosis

Microdeletion 3q syndrome.
Ramieri V, Tarani L, Costantino F, Basile E, Liberati N, Rinna C, Cascone P, Colloridi F
J Craniofac Surg 2011 Nov;22(6):2124-8. doi: 10.1097/SCS.0b013e3182323cdf. PMID: 22067867
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P
Orphanet J Rare Dis 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. PMID: 19267933Free PMC Article
The Greig cephalopolysyndactyly syndrome.
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Velo-cardio-facial syndrome.
Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W
Curr Opin Pediatr 2005 Dec;17(6):725-30. doi: 10.1097/01.mop.0000184465.73833.0b. PMID: 16282778
Alpha-thalassaemia.
Bernini LF, Harteveld CL
Baillieres Clin Haematol 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. PMID: 10872473

Therapy

Recommendations for the management of renal involvement in the tuberous sclerosis complex.
Ariceta G, Buj MJ, Furlano M, Martínez V, Matamala A, Morales M, Robles NR, Sans L, Villacampa F, Torra R
Nefrologia (Engl Ed) 2020 Mar-Apr;40(2):142-151. Epub 2019 Nov 10 doi: 10.1016/j.nefro.2019.07.002. PMID: 31722796
Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.
Furlano M, Barreiro Y, Martí T, Facundo C, Ruiz-García C, DaSilva I, Ayasreh N, Cabrera-López C, Ballarín J, Ars E, Torra R
Nefrologia 2017 Jan-Feb;37(1):87-92. Epub 2016 Aug 29 doi: 10.1016/j.nefro.2016.04.007. PMID: 27595512
Possible mechanisms and gene involvement in speech problems in the 22q11.2 deletion syndrome.
Widdershoven JC, Beemer FA, Kon M, Dejonckere PH, Mink van der Molen AB
J Plast Reconstr Aesthet Surg 2008 Sep;61(9):1016-23. Epub 2008 Jun 12 doi: 10.1016/j.bjps.2008.02.007. PMID: 18554997
Norrie disease and MAO genes: nearest neighbors.
Chen ZY, Denney RM, Breakefield XO
Hum Mol Genet 1995;4 Spec No:1729-37. doi: 10.1093/hmg/4.suppl_1.1729. PMID: 8541872
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR
Am J Hum Genet 1991 Dec;49(6):1207-18. PMID: 1746552Free PMC Article

Prognosis

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Lévy J, Coussement A, Dupont C, Guimiot F, Baumann C, Viot G, Passemard S, Capri Y, Drunat S, Verloes A, Pipiras E, Benzacken B, Dupont JM, Tabet AC
Am J Med Genet A 2017 Aug;173(8):2081-2087. Epub 2017 Jun 1 doi: 10.1002/ajmg.a.38302. PMID: 28573701
Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.
Braddock SR, South ST, Schiffman JD, Longhurst M, Rowe LR, Carey JC
Am J Med Genet A 2016 Oct;170(10):2580-6. Epub 2016 Aug 23 doi: 10.1002/ajmg.a.37870. PMID: 27549381
Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.
Back SJ, Andronikou S, Kilborn T, Kaplan BS, Darge K
Pediatr Radiol 2015 Mar;45(3):386-95. Epub 2014 Oct 30 doi: 10.1007/s00247-014-3147-1. PMID: 25355409
Microdeletion 3q syndrome.
Ramieri V, Tarani L, Costantino F, Basile E, Liberati N, Rinna C, Cascone P, Colloridi F
J Craniofac Surg 2011 Nov;22(6):2124-8. doi: 10.1097/SCS.0b013e3182323cdf. PMID: 22067867
The Greig cephalopolysyndactyly syndrome.
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article

Clinical prediction guides

Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.
Radic CP, Abelleyro MM, Ziegler B, Marchione VD, Nevado J, Lapunzina P, Sciuccati G, Neme D, Rossetti LC, Bonduel M, De Brasi CD
Haemophilia 2023 May;29(3):844-854. Epub 2023 Mar 17 doi: 10.1111/hae.14779. PMID: 36930806
Prader-Willi syndrome: reflections on seminal studies and future therapies.
Chung MS, Langouët M, Chamberlain SJ, Carmichael GG
Open Biol 2020 Sep;10(9):200195. Epub 2020 Sep 23 doi: 10.1098/rsob.200195. PMID: 32961075Free PMC Article
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
Palumbo P, Accadia M, Leone MP, Palladino T, Stallone R, Carella M, Palumbo O
Am J Med Genet A 2018 Feb;176(2):391-398. Epub 2017 Nov 28 doi: 10.1002/ajmg.a.38559. PMID: 29193617
FGFR1 mutations in Kallmann syndrome.
Villanueva C, de Roux N
Front Horm Res 2010;39:51-61. Epub 2010 Apr 8 doi: 10.1159/000312693. PMID: 20389085
Alpha-thalassaemia.
Bernini LF, Harteveld CL
Baillieres Clin Haematol 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. PMID: 10872473

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