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Microcephaly 12, primary, autosomal recessive(MCPH12)

MedGen UID:
863593
Concept ID:
C4015156
Disease or Syndrome
Synonyms: MCPH12; MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE
 
Gene (location): CDK6 (7q21.2)
 
Monarch Initiative: MONDO:0014484
OMIM®: 616080

Definition

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene. [from MONDO]

Clinical features

From HPO
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
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.
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.
Primary microcephaly
MedGen UID:
383046
Concept ID:
C2677180
Finding
Head circumference below 2 standard deviations below the mean for age and gender at birth.
Sloping forehead
MedGen UID:
346640
Concept ID:
C1857679
Finding
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.

Recent clinical studies

Etiology

Zaqout S, Mannaa A, Klein O, Krajewski A, Klose J, Luise-Becker L, Elsabagh A, Ferih K, Kraemer N, Ravindran E, Makridis K, Kaindl AM
Ann Hum Genet 2023 Mar;87(1-2):50-62. Epub 2022 Nov 29 doi: 10.1111/ahg.12489. PMID: 36448252
Cavallin M, Maillard C, Hully M, Philbert M, Boddaert N, Reilly ML, Nitschké P, Bery A, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):729-732. Epub 2018 May 25 doi: 10.1016/j.ejmg.2018.05.002. PMID: 29758293
Mochida GH
Semin Pediatr Neurol 2009 Sep;16(3):120-6. doi: 10.1016/j.spen.2009.07.001. PMID: 19778709Free PMC Article
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

Jahanpanah M, Mokhtari D, Mokaber H, Arish S, Ahmadabadi F, Davarnia B
Mol Genet Genomic Med 2024 Apr;12(4):e2424. doi: 10.1002/mgg3.2424. PMID: 38546112Free PMC Article
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
Mochida GH
Semin Pediatr Neurol 2009 Sep;16(3):120-6. doi: 10.1016/j.spen.2009.07.001. PMID: 19778709Free PMC Article
Cox J, Jackson AP, Bond J, Woods CG
Trends Mol Med 2006 Aug;12(8):358-66. Epub 2006 Jul 10 doi: 10.1016/j.molmed.2006.06.006. PMID: 16829198
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

Prognosis

Zorn M, Kühnisch J, Bachmann S, Seifert W
Sci Rep 2022 Jun 11;12(1):9686. doi: 10.1038/s41598-022-13717-w. PMID: 35690661Free PMC Article
Tavasoli AR, Memar EHE, Ashrafi MR, Hosseini SMM, Haghighi R, Ghabeli H, Pourbakhtyaran E, Rasoulinezhad M, Mohammadi P, Heidari M
J Mol Neurosci 2022 Apr;72(4):719-729. Epub 2022 Jan 4 doi: 10.1007/s12031-021-01955-y. PMID: 34982360
Waseem SS, Moawia A, Budde B, Tariq M, Khan A, Ali Z, Khan S, Iqbal M, Malik NA, Haque SU, Altmüller J, Thiele H, Hussain MS, Cirak S, Baig SM, Nürnberg P
Genes (Basel) 2021 Sep 24;12(10) doi: 10.3390/genes12101494. PMID: 34680889Free PMC Article
Gao ZY, Yu F, Jia HX, Ye Z, Yao SJ
Kaohsiung J Med Sci 2020 Dec;36(12):1021-1029. Epub 2020 Aug 6 doi: 10.1002/kjm2.12284. PMID: 32767492
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: 27130255Free PMC Article

Clinical prediction guides

Zaqout S, Mannaa A, Klein O, Krajewski A, Klose J, Luise-Becker L, Elsabagh A, Ferih K, Kraemer N, Ravindran E, Makridis K, Kaindl AM
Ann Hum Genet 2023 Mar;87(1-2):50-62. Epub 2022 Nov 29 doi: 10.1111/ahg.12489. PMID: 36448252
Zorn M, Kühnisch J, Bachmann S, Seifert W
Sci Rep 2022 Jun 11;12(1):9686. doi: 10.1038/s41598-022-13717-w. PMID: 35690661Free PMC Article
Tavasoli AR, Memar EHE, Ashrafi MR, Hosseini SMM, Haghighi R, Ghabeli H, Pourbakhtyaran E, Rasoulinezhad M, Mohammadi P, Heidari M
J Mol Neurosci 2022 Apr;72(4):719-729. Epub 2022 Jan 4 doi: 10.1007/s12031-021-01955-y. PMID: 34982360
Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, Ghani M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H
J Med Genet 2010 Dec;47(12):823-8. Epub 2010 Oct 26 doi: 10.1136/jmg.2009.076398. PMID: 20978018
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

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