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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): Gene(s) directly associated with this condition or phenotype.	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

Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).

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Impulsivity

MedGen UID:: 43850
•Concept ID:: C0021125
•: Mental or Behavioral Dysfunction

Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.

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Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized 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

Self-aggression.

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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

Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.

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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.

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Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

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Abnormality of the musculoskeletal system
- Microcephaly
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Neurodevelopmental disorder
- Developmental disorder
  - Neurodevelopmental disorder
    - Brain Development Abnormality
      - Isolated congenital microcephaly
        Autosomal recessive primary microcephaly
        Microcephaly 9, primary, autosomal recessive

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: 35192225 Free 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: 9271379 Free PMC Article

See all (3)

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: 35192225 Free 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: 30021525 Free 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 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: 25376329 Free PMC Article

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: 10677332 Free PMC Article

See all (10)

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: 35192225 Free 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: 25376329 Free 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

See all (4)

Clinical prediction guides

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: 25376329 Free PMC Article

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: 10677332 Free PMC Article

See all (10)

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Microcephaly 9, primary, autosomal recessive(MCPH9)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

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