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Inframe Deletion

MedGen UID:
1713560
•Concept ID:
C5237002
•
Cell or Molecular Dysfunction

Definition

A loss of three consecutive nucleotides (one codon) or multiple codons in a gene that encodes for a protein where one or more canonical amino acids are deleted but does not result in a frameshift mutation. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInframe Deletion

Professional guidelines

PubMed

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J
Eur J Hum Genet 2023 Sep;31(9):1023-1031. Epub 2023 Jun 21 doi: 10.1038/s41431-023-01410-z. PMID: 37344571Free PMC Article
Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants.
Luo H, Xiao X, Li S, Sun W, Yi Z, Wang P, Zhang Q
Exp Eye Res 2021 Feb;203:108405. Epub 2020 Dec 18 doi: 10.1016/j.exer.2020.108405. PMID: 33347869
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L
Am J Hum Genet 2007 Jan;80(1):140-51. Epub 2006 Dec 8 doi: 10.1086/510781. PMID: 17160901Free PMC Article

Recent clinical studies

Etiology

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J
Eur J Hum Genet 2023 Sep;31(9):1023-1031. Epub 2023 Jun 21 doi: 10.1038/s41431-023-01410-z. PMID: 37344571Free PMC Article
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G
Brain 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. PMID: 34114611
An Inframe Trinucleotide Deletion in MTRR Exon 1 is Associated with the Risk of Spina Bifida.
Zhang J, Dai XL, Liu GC, Wang J, Ren XY, Jin MH, Mi NN, Wang SQ
Neuromolecular Med 2017 Sep;19(2-3):387-394. Epub 2017 Jul 15 doi: 10.1007/s12017-017-8452-z. PMID: 28712006
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families.
Llovet P, Illana FJ, Martín-Morales L, de la Hoya M, Garre P, Ibañez-Royo MD, Pérez-Segura P, Caldés T, García-Barberán V
Fam Cancer 2017 Oct;16(4):567-575. doi: 10.1007/s10689-017-9990-0. PMID: 28573494
Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit.
Sinici I, Tropak MB, Mahuran DJ, Ozkara HA
J Inherit Metab Dis 2004;27(6):747-56. doi: 10.1023/B:BOLI.0000045759.12935.76. PMID: 15505380Free PMC Article

Diagnosis

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Seyama R, Uchiyama Y, Ceroni JRM, Kim VEH, Furquim I, Honjo RS, Castro MAA, Pires LVL, Aoi H, Iwama K, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Bertola DR, Kim CA, Matsumoto N
Genomics 2022 Sep;114(5):110468. Epub 2022 Aug 27 doi: 10.1016/j.ygeno.2022.110468. PMID: 36041635
Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
Wadon ME, Fenner E, Kendall KM, Bailey GA, Sandor C, Rees E, Peall KJ
J Neurol 2022 Dec;269(12):6436-6451. Epub 2022 Aug 4 doi: 10.1007/s00415-022-11307-4. PMID: 35925398Free PMC Article
Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia.
Ittiwut R, Sengpanich K, Lauhasurayotin S, Ittiwut C, Shotelersuk V, Sosothikul D, Suphapeetiporn K
J Clin Pathol 2022 Feb;75(2):99-103. Epub 2020 Dec 14 doi: 10.1136/jclinpath-2020-207139. PMID: 33318085
An Inframe Trinucleotide Deletion in MTRR Exon 1 is Associated with the Risk of Spina Bifida.
Zhang J, Dai XL, Liu GC, Wang J, Ren XY, Jin MH, Mi NN, Wang SQ
Neuromolecular Med 2017 Sep;19(2-3):387-394. Epub 2017 Jul 15 doi: 10.1007/s12017-017-8452-z. PMID: 28712006
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families.
Llovet P, Illana FJ, Martín-Morales L, de la Hoya M, Garre P, Ibañez-Royo MD, Pérez-Segura P, Caldés T, García-Barberán V
Fam Cancer 2017 Oct;16(4):567-575. doi: 10.1007/s10689-017-9990-0. PMID: 28573494

Therapy

Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia.
Ittiwut R, Sengpanich K, Lauhasurayotin S, Ittiwut C, Shotelersuk V, Sosothikul D, Suphapeetiporn K
J Clin Pathol 2022 Feb;75(2):99-103. Epub 2020 Dec 14 doi: 10.1136/jclinpath-2020-207139. PMID: 33318085
EGFR and PDL1: A Match (Not) Made in Heaven-A Real-World Retrospective Analysis of PDL1 Expression in EGFR-Mutated NSCLC.
Batra U, Sharma M, Nathany S, Bansal A, Pasricha S, Jain P, Mehta A, Singh H
Adv Ther 2021 Apr;38(4):1791-1800. Epub 2021 Feb 27 doi: 10.1007/s12325-021-01655-4. PMID: 33641057
Comparative Genomic Analysis of Two Clonally Related Multidrug Resistant Mycobacterium tuberculosis by Single Molecule Real Time Sequencing.
Leung KS, Siu GK, Tam KK, To SW, Rajwani R, Ho PL, Wong SS, Zhao WW, Ma OC, Yam WC
Front Cell Infect Microbiol 2017;7:478. Epub 2017 Nov 15 doi: 10.3389/fcimb.2017.00478. PMID: 29188195Free PMC Article
Validation of a molecular diagnostic assay for CALR exon 9 indels in myeloproliferative neoplasms: identification of coexisting JAK2 and CALR mutations and a novel 9 bp deletion in CALR.
Murugesan G, Guenther-Johnson J, Mularo F, Cook JR, Daly TM
Int J Lab Hematol 2016 Jun;38(3):284-97. Epub 2016 Mar 28 doi: 10.1111/ijlh.12484. PMID: 27018326
CT Gray-Level Texture Analysis as a Quantitative Imaging Biomarker of Epidermal Growth Factor Receptor Mutation Status in Adenocarcinoma of the Lung.
Ozkan E, West A, Dedelow JA, Chu BF, Zhao W, Yildiz VO, Otterson GA, Shilo K, Ghosh S, King M, White RD, Erdal BS
AJR Am J Roentgenol 2015 Nov;205(5):1016-25. doi: 10.2214/AJR.14.14147. PMID: 26496549

Prognosis

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W
BMC Med Genomics 2023 Sep 25;16(1):223. doi: 10.1186/s12920-023-01665-x. PMID: 37749571Free PMC Article
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants.
Luo H, Xiao X, Li S, Sun W, Yi Z, Wang P, Zhang Q
Exp Eye Res 2021 Feb;203:108405. Epub 2020 Dec 18 doi: 10.1016/j.exer.2020.108405. PMID: 33347869
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S
Hum Genet 2020 Dec;139(12):1565-1574. Epub 2020 Jun 19 doi: 10.1007/s00439-020-02197-5. PMID: 32562050Free PMC Article
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E, Milord E, Gragnoli C
J Cell Physiol 2008 Dec;217(3):605-17. doi: 10.1002/jcp.21552. PMID: 18726898

Clinical prediction guides

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
Wadon ME, Fenner E, Kendall KM, Bailey GA, Sandor C, Rees E, Peall KJ
J Neurol 2022 Dec;269(12):6436-6451. Epub 2022 Aug 4 doi: 10.1007/s00415-022-11307-4. PMID: 35925398Free PMC Article
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G
Brain 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. PMID: 34114611
Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants.
Luo H, Xiao X, Li S, Sun W, Yi Z, Wang P, Zhang Q
Exp Eye Res 2021 Feb;203:108405. Epub 2020 Dec 18 doi: 10.1016/j.exer.2020.108405. PMID: 33347869
An Inframe Trinucleotide Deletion in MTRR Exon 1 is Associated with the Risk of Spina Bifida.
Zhang J, Dai XL, Liu GC, Wang J, Ren XY, Jin MH, Mi NN, Wang SQ
Neuromolecular Med 2017 Sep;19(2-3):387-394. Epub 2017 Jul 15 doi: 10.1007/s12017-017-8452-z. PMID: 28712006
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E, Milord E, Gragnoli C
J Cell Physiol 2008 Dec;217(3):605-17. doi: 10.1002/jcp.21552. PMID: 18726898

Recent systematic reviews

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article

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