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Autosomal recessive primary microcephaly

MedGen UID:
777995
Concept ID:
C3711387
Disease or Syndrome
Synonym: MCPH syndrome
SNOMED CT: Autosomal recessive primary microcephaly (715981004); Microcephalia vera (715981004); True microcephaly (715981004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: WDR62, ASPM, SASS6, MFSD2A, MCPH1, ZNF335, KNL1, CPAP, CDK5RAP2, CEP152, CEP135, STIL, PHC1, CENPE, CDK6
 
Monarch Initiative: MONDO:0016660
OMIM® Phenotypic series: PS251200
Orphanet: ORPHA2512

Definition

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development with features of reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. It is more common in specific populations, e.g. northern Pakistanis. Consanguinity appears to play a role in incidence. Patients have a reduction in head circumference at birth of at least 2 standard deviations below ethnically matched, age- and sex-related mean values. Caused by mutations in MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, STIL, CEP63, CEP135 , CASC5 and PHC1. These mutations appear to lead to reduced generation of cerebral cortical neurons during embryonic neurogenesis. Inheritance is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

Professional guidelines

PubMed

Zhang Y, Li H, Pang J, Peng Y, Shu L, Wang H
Clin Chim Acta 2019 Apr;491:15-18. Epub 2019 Jan 10 doi: 10.1016/j.cca.2019.01.007. PMID: 30639237
Tunca Y, Vurucu S, Parma J, Akin R, Désir J, Baser I, Ergun A, Abramowicz M
Prenat Diagn 2006 May;26(5):449-53. doi: 10.1002/pd.1434. PMID: 16532515

Recent clinical studies

Etiology

Aslam K, Anjum I, Aslam K, Haq R, Bashir R
Mol Biol Rep 2023 Oct;50(10):8049-8059. Epub 2023 Aug 4 doi: 10.1007/s11033-023-08681-1. PMID: 37541996
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
Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B, Luise-Becker L, Martins N, Picker-Minh S, Bessa P, Arts P, Jackson MR, Taranath A, Kamien B, Barnett C, Li N, Tarabykin V, Stoltenburg-Didinger G, Harel A, Selbach M, Dickmanns A, Fahrenkrog B, Hu H, Scott H, Kaindl AM
Hum Mol Genet 2021 Nov 1;30(22):2068-2081. doi: 10.1093/hmg/ddab160. PMID: 34170319Free PMC Article
Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L
J Appl Genet 2019 May;60(2):151-162. Epub 2019 Feb 1 doi: 10.1007/s13353-019-00486-y. PMID: 30706430
Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S
Hum Mutat 2018 Mar;39(3):319-332. Epub 2018 Jan 16 doi: 10.1002/humu.23381. PMID: 29243349

Diagnosis

Kalmin MM, Gower EW, Stringer EM, Bowman NM, Rogawski McQuade ET, Westreich D
Paediatr Perinat Epidemiol 2019 Jul;33(4):286-290. doi: 10.1111/ppe.12561. PMID: 31347726Free PMC Article
Zaqout S, Morris-Rosendahl D, Kaindl AM
Neuropediatrics 2017 Jun;48(3):135-142. Epub 2017 Apr 11 doi: 10.1055/s-0037-1601448. PMID: 28399591
Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, Pushparaj P, Ahmed F, Algahtani HA, Al-Qahtani MH, Saleh Jamal H
BMC Med Genomics 2015;8 Suppl 1(Suppl 1):S4. Epub 2015 Jan 15 doi: 10.1186/1755-8794-8-S1-S4. PMID: 25951892Free PMC Article
Mahmood S, Ahmad W, Hassan MJ
Orphanet J Rare Dis 2011 Jun 13;6:39. doi: 10.1186/1750-1172-6-39. PMID: 21668957Free 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

Therapy

Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L
J Appl Genet 2019 May;60(2):151-162. Epub 2019 Feb 1 doi: 10.1007/s13353-019-00486-y. PMID: 30706430
Kitagawa D, Kohlmaier G, Keller D, Strnad P, Balestra FR, Flückiger I, Gönczy P
J Cell Sci 2011 Nov 15;124(Pt 22):3884-93. Epub 2011 Nov 18 doi: 10.1242/jcs.089888. PMID: 22100914

Prognosis

Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS
J Hum Genet 2023 Jul;68(7):469-475. Epub 2023 Mar 3 doi: 10.1038/s10038-023-01132-6. PMID: 36864288
Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B, Luise-Becker L, Martins N, Picker-Minh S, Bessa P, Arts P, Jackson MR, Taranath A, Kamien B, Barnett C, Li N, Tarabykin V, Stoltenburg-Didinger G, Harel A, Selbach M, Dickmanns A, Fahrenkrog B, Hu H, Scott H, Kaindl AM
Hum Mol Genet 2021 Nov 1;30(22):2068-2081. doi: 10.1093/hmg/ddab160. PMID: 34170319Free PMC Article
Kalmin MM, Gower EW, Stringer EM, Bowman NM, Rogawski McQuade ET, Westreich D
Paediatr Perinat Epidemiol 2019 Jul;33(4):286-290. doi: 10.1111/ppe.12561. PMID: 31347726Free PMC Article
Stouffs K, Stergachis AB, Vanderhasselt T, Dica A, Janssens S, Vandervore L, Gheldof A, Bodamer O, Keymolen K, Seneca S, Liebaers I, Jayaraman D, Hill HE, Partlow JN, Walsh CA, Jansen AC
Clin Genet 2018 Aug;94(2):246-251. Epub 2018 May 3 doi: 10.1111/cge.13260. PMID: 29652087Free PMC Article
Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, Pushparaj P, Ahmed F, Algahtani HA, Al-Qahtani MH, Saleh Jamal H
BMC Med Genomics 2015;8 Suppl 1(Suppl 1):S4. Epub 2015 Jan 15 doi: 10.1186/1755-8794-8-S1-S4. PMID: 25951892Free 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
Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B, Luise-Becker L, Martins N, Picker-Minh S, Bessa P, Arts P, Jackson MR, Taranath A, Kamien B, Barnett C, Li N, Tarabykin V, Stoltenburg-Didinger G, Harel A, Selbach M, Dickmanns A, Fahrenkrog B, Hu H, Scott H, Kaindl AM
Hum Mol Genet 2021 Nov 1;30(22):2068-2081. doi: 10.1093/hmg/ddab160. PMID: 34170319Free PMC Article
Kalmin MM, Gower EW, Stringer EM, Bowman NM, Rogawski McQuade ET, Westreich D
Paediatr Perinat Epidemiol 2019 Jul;33(4):286-290. doi: 10.1111/ppe.12561. PMID: 31347726Free PMC Article
Stouffs K, Stergachis AB, Vanderhasselt T, Dica A, Janssens S, Vandervore L, Gheldof A, Bodamer O, Keymolen K, Seneca S, Liebaers I, Jayaraman D, Hill HE, Partlow JN, Walsh CA, Jansen AC
Clin Genet 2018 Aug;94(2):246-251. Epub 2018 May 3 doi: 10.1111/cge.13260. PMID: 29652087Free PMC Article
Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, Pushparaj P, Ahmed F, Algahtani HA, Al-Qahtani MH, Saleh Jamal H
BMC Med Genomics 2015;8 Suppl 1(Suppl 1):S4. Epub 2015 Jan 15 doi: 10.1186/1755-8794-8-S1-S4. PMID: 25951892Free PMC Article

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