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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
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: 30021525Free 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
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
Cockayne's syndrome: a case report. Literature review.
Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC
Med Oral Patol Oral Cir Bucal 2006 May 1;11(3):E236-8. PMID: 16648759

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

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
Cep63 and cep152 cooperate to ensure centriole duplication.
Brown NJ, Marjanović M, Lüders J, Stracker TH, Costanzo V
PLoS One 2013;8(7):e69986. Epub 2013 Jul 30 doi: 10.1371/journal.pone.0069986. PMID: 23936128Free PMC Article
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
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
Cockayne's syndrome: a case report. Literature review.
Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC
Med Oral Patol Oral Cir Bucal 2006 May 1;11(3):E236-8. PMID: 16648759

Supplemental Content

Table of contents

    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

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