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Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency(ICF1)

MedGen UID:
140770
•Concept ID:
C0398788
•
Disease or Syndrome
Synonyms: Centromeric instability, immunodeficiency syndrome; ICF syndrome; ICF1; Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16; Immunodeficiency syndrome, variable; Immunodeficiency-centromeric instability-facial anomalies; Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
SNOMED CT: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (234633000); Immunodeficiency-centromeric instability-facial anomalies syndrome (234633000); Centromeric instability, immunodeficiency syndrome (234633000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: CDCA7, ZBTB24, HELLS, DNMT3B
 
Monarch Initiative: MONDO:0000133
OMIM®: 242860
OMIM® Phenotypic series: PS242860
Orphanet: ORPHA2268

Definition

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. [from ORDO]

Recent clinical studies

Etiology

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, Velasco G, Francastel C, Picard C, Kubota T, Sasaki H
J Hum Genet 2013 Jul;58(7):455-60. Epub 2013 Jun 6 doi: 10.1038/jhg.2013.56. PMID: 23739126

Diagnosis

Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.
Kutluğ S, Ogur G, Yilmaz A, Thijssen PE, Abur U, Yildiran A
Am J Med Genet A 2016 Dec;170(12):3253-3257. Epub 2016 Sep 8 doi: 10.1002/ajmg.a.37866. PMID: 27604394
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, Velasco G, Francastel C, Picard C, Kubota T, Sasaki H
J Hum Genet 2013 Jul;58(7):455-60. Epub 2013 Jun 6 doi: 10.1038/jhg.2013.56. PMID: 23739126
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM
J Med Genet 2008 Feb;45(2):93-9. Epub 2007 Sep 24 doi: 10.1136/jmg.2007.053397. PMID: 17893117
Progressive multifocal leukoencephalopathy in an adult patient with ICF syndrome.
Colucci M, Cocito L, Capello E, Mancardi GL, Serrati C, Cinque P, Schenone A
J Neurol Sci 2004 Jan 15;217(1):107-10. doi: 10.1016/j.jns.2003.08.009. PMID: 14675617
Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL
Hum Mutat 2000 Dec;16(6):509-17. doi: 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V. PMID: 11102980

Prognosis

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM
J Med Genet 2008 Feb;45(2):93-9. Epub 2007 Sep 24 doi: 10.1136/jmg.2007.053397. PMID: 17893117

Clinical prediction guides

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM
Neurology 2007 Sep 4;69(10):1018-26. doi: 10.1212/01.wnl.0000271391.44352.fe. PMID: 17785671
Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL
Hum Mutat 2000 Dec;16(6):509-17. doi: 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V. PMID: 11102980
FISH analysis on spontaneously arising micronuclei in the ICF syndrome.
Stacey M, Bennett MS, Hulten M
J Med Genet 1995 Jul;32(7):502-8. doi: 10.1136/jmg.32.7.502. PMID: 7562960Free PMC Article

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