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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

Neurodegeneration in the elderly - When the blood type matters: An overview of the McLeod syndrome with focus on hematological features.
Frey BM, Gassner C, Jung HH
Transfus Apher Sci 2015 Jun;52(3):277-84. Epub 2015 Apr 14 doi: 10.1016/j.transci.2015.04.007. PMID: 25934153
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
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
Molecular and neurologic findings of peroxisome biogenesis disorders.
Shimozawa N, Nagase T, Takemoto Y, Funato M, Kondo N, Suzuki Y
J Child Neurol 2005 Apr;20(4):326-9. doi: 10.1177/08830738050200041001. PMID: 15921234
The molecular genetics of the 22q11-associated schizophrenia.
Karayiorgou M, Gogos JA
Brain Res Mol Brain Res 2004 Dec 20;132(2):95-104. doi: 10.1016/j.molbrainres.2004.09.029. PMID: 15582150

Diagnosis

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
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
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

Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report.
Gonda K, Akama T, Nakamura T, Hashimoto E, Kyoya N, Rokkaku Y, Maejima Y, Horita S, Tachibana K, Abe N, Ohtake T, Shimomura K, Kono K, Saji S, Takenoshita S, Higashihara E
J Med Case Rep 2019 Dec 24;13(1):381. doi: 10.1186/s13256-019-2274-6. PMID: 31870441Free PMC Article
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.
Cabrera-López C, Bullich G, Martí T, Català V, Ballarín J, Bissler JJ, Harris PC, Ars E, Torra R
BMC Med Genet 2015 Jun 17;16:39. doi: 10.1186/s12881-015-0185-y. PMID: 26077033Free PMC Article
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

Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.
Boese EA, Tollefson MR, Schnieders MJ, Darbro BW, Alward WLM, Fingert JH
Curr Eye Res 2020 Jan;45(1):91-96. Epub 2019 Aug 14 doi: 10.1080/02713683.2019.1649704. PMID: 31361967Free PMC Article
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
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

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
Morphological and genetic abnormalities in a Jacobsen syndrome.
Jurcă AD, Kozma K, Ioana M, Streaţă I, Petcheşi CD, Bembea M, Jurcă MC, Cuc EA, Vesa CM, Buhaş CL
Rom J Morphol Embryol 2017;58(4):1531-1534. PMID: 29556653
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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