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Microcephaly 11, primary, autosomal recessive(MCPH11)

MedGen UID:: 815761
•Concept ID:: C3809431
•: Disease or Syndrome

Synonym:	Primary Autosomal Recessive Microcephaly Type11

Gene (location): Gene(s) directly associated with this condition or phenotype.	PHC1 (12p13.31)

Monarch Initiative:	MONDO:0014173
OMIM®:	615414

Definition

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene. [from MONDO]

Clinical features

From HPO

Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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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Abnormality of the musculoskeletal system
- Microcephaly
Growth abnormality
- Short stature

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 11, primary, autosomal recessive

Recent clinical studies

Etiology

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL
Am J Hum Genet 2022 Nov 3;109(11):2068-2079. Epub 2022 Oct 24 doi: 10.1016/j.ajhg.2022.09.012. PMID: 36283405 Free PMC Article

Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly.

Scala I, Titomanlio L, Del Giudice E, Passemard S, Figliuolo C, Annunziata P, Granese B, Scarpato E, Verloes A, Andria G
Am J Med Genet A 2010 Nov;152A(11):2882-5. doi: 10.1002/ajmg.a.33672. PMID: 20949544

The molecular landscape of ASPM mutations in primary microcephaly.

Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG
J Med Genet 2009 Apr;46(4):249-53. Epub 2008 Nov 21 doi: 10.1136/jmg.2008.062380. PMID: 19028728 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

See all (4)

Diagnosis

CEP135 associated primary microcephaly-A rare presentation in early second trimester.

Nerakh G, Mounika K, Geeta K, Nalluri HB
Eur J Med Genet 2021 Jul;64(7):104233. Epub 2021 Apr 30 doi: 10.1016/j.ejmg.2021.104233. PMID: 33933664

Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family.

Razmara E, Azimi H, Tavasoli AR, Fallahi E, Sheida SV, Eidi M, Bitaraf A, Farjami Z, Daneshmand MA, Garshasbi M
Eur J Med Genet 2020 Dec;63(12):104096. Epub 2020 Nov 11 doi: 10.1016/j.ejmg.2020.104096. PMID: 33186761

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

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG
Ann Neurol 2016 Jul;80(1):59-70. Epub 2016 Jun 1 doi: 10.1002/ana.24678. PMID: 27130255 Free PMC Article

The molecular landscape of ASPM mutations in primary microcephaly.

See all (8)

Prognosis

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

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

Desir J, Cassart M, David P, Van Bogaert P, Abramowicz M
Am J Med Genet A 2008 Jun 1;146A(11):1439-43. doi: 10.1002/ajmg.a.32312. PMID: 18452193

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

Protein-truncating mutations in ASPM cause variable reduction in brain size.

Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG
Am J Hum Genet 2003 Nov;73(5):1170-7. Epub 2003 Oct 21 doi: 10.1086/379085. PMID: 14574646 Free PMC Article

See all (5)

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

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmüller J, Frommolt P, Thiele H, Höhne W, Yigit G, Wollnik B, Neubauer BA, Nürnberg P, Noegel AA
Hum Mol Genet 2013 Dec 20;22(25):5199-214. Epub 2013 Aug 4 doi: 10.1093/hmg/ddt374. PMID: 23918663

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

Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32.

Jamieson CR, Fryns JP, Jacobs J, Matthijs G, Abramowicz MJ
Am J Hum Genet 2000 Dec;67(6):1575-7. Epub 2000 Nov 6 doi: 10.1086/316909. PMID: 11067780 Free PMC Article

See all (11)

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Microcephaly 11, primary, autosomal recessive(MCPH11)

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

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