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Microcephaly 9, primary, autosomal recessive(MCPH9)

MedGen UID:
766800
•Concept ID:
C3553886
•
Disease or Syndrome
Synonyms: MCPH9; MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
 
Gene (location): CEP152 (15q21.1)
 
Monarch Initiative: MONDO:0013923
OMIM®: 614852

Definition

Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (Woods et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). [from OMIM]

Clinical features

From HPO
Aggressive behavior
MedGen UID:
1375
•Concept ID:
C0001807
•
Individual Behavior
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
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Impulsivity
MedGen UID:
43850
•Concept ID:
C0021125
•
Mental or Behavioral Dysfunction
Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress.
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Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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Self-injurious behavior
MedGen UID:
88371
•Concept ID:
C0085271
•
Individual Behavior
Aggression towards oneself.
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Bimanual synkinesia
MedGen UID:
473166
•Concept ID:
C0454455
•
Disease or Syndrome
Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.
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Compulsive behaviors
MedGen UID:
109373
•Concept ID:
C0600104
•
Mental or Behavioral Dysfunction
Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
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Motor tics
MedGen UID:
199761
•Concept ID:
C0751900
•
Sign or Symptom
Movement-based tics affecting discrete muscle groups.
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Simplified gyral pattern
MedGen UID:
413664
•Concept ID:
C2749675
•
Finding
An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Molybdenum cofactor deficiency: A natural history.
Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225Free PMC Article
Aggressive periodontitis associated with Fanconi's anemia. A case report.
Nowzari H, Jorgensen MG, Ta TT, Contreras A, Slots J
J Periodontol 2001 Nov;72(11):1601-6. doi: 10.1902/jop.2001.72.11.1601. PMID: 11759873
Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation.
Jongmans W, Vuillaume M, Chrzanowska K, Smeets D, Sperling K, Hall J
Mol Cell Biol 1997 Sep;17(9):5016-22. doi: 10.1128/MCB.17.9.5016. PMID: 9271379Free PMC Article

Diagnosis

Molybdenum cofactor deficiency: A natural history.
Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225Free PMC Article
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS
Mol Genet Genomic Med 2020 Sep;8(9):e1408. Epub 2020 Jul 17 doi: 10.1002/mgg3.1408. PMID: 32677750Free PMC Article
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
Cherkaoui Jaouad I, Zrhidri A, Jdioui W, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A
BMC Med Genet 2018 Jul 18;19(1):118. doi: 10.1186/s12881-018-0625-6. PMID: 30021525Free PMC Article
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
Abdel-Hamid MS, Ismail MF, Darwish HA, Effat LK, Zaki MS, Abdel-Salam GM
Am J Med Genet A 2016 Aug;170(8):2133-40. Epub 2016 Jun 2 doi: 10.1002/ajmg.a.37724. PMID: 27250695
A novel WDR62 mutation causes primary microcephaly in a Pakistani family.
Memon MM, Raza SI, Basit S, Kousar R, Ahmad W, Ansar M
Mol Biol Rep 2013 Jan;40(1):591-5. Epub 2012 Oct 14 doi: 10.1007/s11033-012-2097-7. PMID: 23065275

Prognosis

Molybdenum cofactor deficiency: A natural history.
Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225Free PMC Article
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
Basit S, Al-Harbi KM, Alhijji SA, Albalawi AM, Alharby E, Eldardear A, Samman MI
Hum Genet 2016 Oct;135(10):1199-207. Epub 2016 Aug 12 doi: 10.1007/s00439-016-1724-0. PMID: 27519304
A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.
Swartz JM, Akinci A, Andrew SF, Siğirci A, Hirschhorn JN, Rosenfeld RG, Dauber A, Hwa V
Horm Res Paediatr 2014;82(5):344-52. Epub 2014 Nov 1 doi: 10.1159/000368192. PMID: 25376329Free PMC Article
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W
J Hum Genet 2006;51(9):760-764. Epub 2006 Aug 10 doi: 10.1007/s10038-006-0017-1. PMID: 16900296

Clinical prediction guides

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS
Mol Genet Genomic Med 2020 Sep;8(9):e1408. Epub 2020 Jul 17 doi: 10.1002/mgg3.1408. PMID: 32677750Free PMC Article
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
Basit S, Al-Harbi KM, Alhijji SA, Albalawi AM, Alharby E, Eldardear A, Samman MI
Hum Genet 2016 Oct;135(10):1199-207. Epub 2016 Aug 12 doi: 10.1007/s00439-016-1724-0. PMID: 27519304
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A
Neurology 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. PMID: 19770472
Cockayne's syndrome: a case report. Literature review.
Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC
Med Oral Patol Oral Cir Bucal 2006 May 1;11(3):E236-8. PMID: 16648759
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.
Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, Corry P, Turner G, Mueller RF, Lench NJ, Woods CG
Am J Hum Genet 2000 Feb;66(2):724-7. doi: 10.1086/302777. PMID: 10677332Free PMC Article

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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