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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.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
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

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

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
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
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
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
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

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
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
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
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

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
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
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
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
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

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