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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
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).
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; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress.
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.
Self-injurious behavior
MedGen UID:
88371
Concept ID:
C0085271
Individual Behavior
Self-aggression.
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.
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.
Motor tics
MedGen UID:
199761
Concept ID:
C0751900
Sign or Symptom
Movement-based tics affecting discrete muscle groups.
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.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.

Recent clinical studies

Etiology

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
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
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

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
Marczak H, Heropolitańska-Pliszka E, Langfort R, Roik D, Grzela K
Pediatrics 2018 Oct;142(4) Epub 2018 Sep 12 doi: 10.1542/peds.2018-0122. PMID: 30209074
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
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
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

Prognosis

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
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
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
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

Marczak H, Heropolitańska-Pliszka E, Langfort R, Roik D, Grzela K
Pediatrics 2018 Oct;142(4) Epub 2018 Sep 12 doi: 10.1542/peds.2018-0122. PMID: 30209074
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
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
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
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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