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Microcephaly 22, primary, autosomal recessive(MCPH22)

MedGen UID:
1635688
•Concept ID:
C4693834
•
Disease or Syndrome
Synonyms: MCPH22; MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE
 
Gene (location): NCAPD3 (11q25)
 
Monarch Initiative: MONDO:0054805
OMIM®: 617984

Clinical features

From HPO
Limb hypertonia
MedGen UID:
333083
•Concept ID:
C1838391
•
Finding
See: Feature record | Search on this feature
Small for gestational age
MedGen UID:
65920
•Concept ID:
C0235991
•
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
See: Feature record | Search on this feature
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
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.
See: Feature record | Search on this feature
Moderate global developmental delay
MedGen UID:
500807
•Concept ID:
C2237142
•
Finding
A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.
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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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: 35192225Free PMC Article
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
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
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
McDonell LM, Warman Chardon J, Schwartzentruber J, Foster D, Beaulieu CL; FORGE Canada Consortium, Majewski J, Bulman DE, Boycott KM
BMC Neurol 2014 Jan 31;14:22. doi: 10.1186/1471-2377-14-22. PMID: 24479948Free 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

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: 35192225Free PMC Article
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
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
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
Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.
Wang R, Khan A, Han S, Zhang X
J Hum Genet 2017 Feb;62(2):299-304. Epub 2016 Oct 27 doi: 10.1038/jhg.2016.128. PMID: 27784895
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
McDonell LM, Warman Chardon J, Schwartzentruber J, Foster D, Beaulieu CL; FORGE Canada Consortium, Majewski J, Bulman DE, Boycott KM
BMC Neurol 2014 Jan 31;14:22. doi: 10.1186/1471-2377-14-22. PMID: 24479948Free PMC Article

Therapy

PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation.
Miyamoto T, Akutsu SN, Fukumitsu A, Morino H, Masatsuna Y, Hosoba K, Kawakami H, Yamamoto T, Shimizu K, Ohashi H, Matsuura S
Hum Mol Genet 2017 Nov 15;26(22):4429-4440. doi: 10.1093/hmg/ddx330. PMID: 28973348

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: 35192225Free PMC Article
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
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
Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review.
Tatar A, Ocak Z, Tatar A, Yesilyurt A, Borekci B, Oztas S
Am J Med Genet A 2009 Mar;149A(3):501-4. doi: 10.1002/ajmg.a.32645. PMID: 19213036

Clinical prediction guides

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
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
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
Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma.
Venkatesh T, Nagashri MN, Swamy SS, Mohiyuddin SM, Gopinath KS, Kumar A
PLoS One 2013;8(3):e54643. Epub 2013 Mar 5 doi: 10.1371/journal.pone.0054643. PMID: 23472065Free 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

Supplemental Content

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    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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