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Microcephaly 8, primary, autosomal recessive(MCPH8)

MedGen UID:
766328
•Concept ID:
C3553414
•
Disease or Syndrome
Synonyms: MCPH8; MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
 
Gene (location): CEP135 (4q12)
 
Monarch Initiative: MONDO:0013849
OMIM®: 614673

Definition

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene. [from MONDO]

Clinical features

From HPO
Intellectual disability, severe
MedGen UID:
48638
•Concept ID:
C0036857
•
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
See: Feature record | Search on this feature
Retrognathia
MedGen UID:
19766
•Concept ID:
C0035353
•
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
See: Feature record | Search on this feature
Primary microcephaly
MedGen UID:
383046
•Concept ID:
C2677180
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender at birth.
See: Feature record | Search on this feature
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.
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

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
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 and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
Abdel-Hamid MS, Ismail MF, Darwish HA, Effat LK, Zaki MS, Abdel-Salam GM
Am J Med Genet A 2016 Aug;170(8):2133-40. Epub 2016 Jun 2 doi: 10.1002/ajmg.a.37724. PMID: 27250695
Molecular genetics of human primary microcephaly: an overview.
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
What primary microcephaly can tell us about brain growth.
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

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
Molecular genetics of human primary microcephaly: an overview.
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
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
Kumar A, Girimaji SC, Duvvari MR, Blanton SH
Am J Hum Genet 2009 Feb;84(2):286-90. doi: 10.1016/j.ajhg.2009.01.017. PMID: 19215732Free PMC Article
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A, Roche C, Gonzalez C, Sanchez H, Garcia-Alix A, Cabanas F, Escudero RM, Hernandez R, Quero J
Am J Med Genet 1999 Aug 27;85(5):479-85. doi: 10.1002/(sici)1096-8628(19990827)85:5<479::aid-ajmg9>3.3.co;2-4. PMID: 10405446

Clinical prediction guides

Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Carvalhal S, Bader I, Rooimans MA, Oostra AB, Balk JA, Feichtinger RG, Beichler C, Speicher MR, van Hagen JM, Waisfisz Q, van Haelst M, Bruijn M, Tavares A, Mayr JA, Wolthuis RMF, Oliveira RA, de Lange J
Sci Adv 2022 Jan 21;8(3):eabk0114. Epub 2022 Jan 19 doi: 10.1126/sciadv.abk0114. PMID: 35044816Free PMC Article
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS
Mol Genet Genomic Med 2020 Sep;8(9):e1408. Epub 2020 Jul 17 doi: 10.1002/mgg3.1408. PMID: 32677750Free PMC Article
Molecular genetics of human primary microcephaly: an overview.
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
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G
Hum Mol Genet 2015 Jul 1;24(13):3708-17. Epub 2015 Apr 3 doi: 10.1093/hmg/ddv115. PMID: 25839420
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.
Marchal JA, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, Sternberg N, Busche A, Krawitz P, Hecht J, Robinson P, Mundlos S, Graul-Neumann L, Sperling K, Trimborn M, Neitzel H
Cell Cycle 2011 Sep 1;10(17):2967-77. doi: 10.4161/cc.10.17.16871. PMID: 21857152

Supplemental Content

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    Clinical resources

    Reviews

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      Related information in NCBI Gene
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      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
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