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Microcephaly 14, primary, autosomal recessive(MCPH14)

MedGen UID:
906798
Concept ID:
C4225338
Disease or Syndrome
Synonyms: MCPH14; MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
 
Gene (location): SASS6 (1p21.2)
 
Monarch Initiative: MONDO:0014623
OMIM®: 616402

Definition

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene. [from MONDO]

Clinical features

From HPO
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
Poor speech
MedGen UID:
341172
Concept ID:
C1848207
Finding
Primary microcephaly
MedGen UID:
383046
Concept ID:
C2677180
Finding
Head circumference below 2 standard deviations below the mean for age and gender at birth.

Recent clinical studies

Etiology

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
Sarmento KM Jr, Tomita S, Caliman e Gurgel JD
Int J Pediatr Otorhinolaryngol 2008 May;72(5):711-4. Epub 2008 Mar 10 doi: 10.1016/j.ijporl.2008.01.018. PMID: 18329728
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

Wah YMI, Cao Y, Law CY, Choy KW, Leung TY, Kwan HWA, Poon LC
Fetal Diagn Ther 2023;50(2):84-91. Epub 2023 Feb 3 doi: 10.1159/000529504. PMID: 36739862
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
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

Kouprina N, Pavlicek A, Collins NK, Nakano M, Noskov VN, Ohzeki J, Mochida GH, Risinger JI, Goldsmith P, Gunsior M, Solomon G, Gersch W, Kim JH, Barrett JC, Walsh CA, Jurka J, Masumoto H, Larionov V
Hum Mol Genet 2005 Aug 1;14(15):2155-65. Epub 2005 Jun 22 doi: 10.1093/hmg/ddi220. PMID: 15972725

Clinical prediction guides

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
Kouprina N, Pavlicek A, Collins NK, Nakano M, Noskov VN, Ohzeki J, Mochida GH, Risinger JI, Goldsmith P, Gunsior M, Solomon G, Gersch W, Kim JH, Barrett JC, Walsh CA, Jurka J, Masumoto H, Larionov V
Hum Mol Genet 2005 Aug 1;14(15):2155-65. Epub 2005 Jun 22 doi: 10.1093/hmg/ddi220. PMID: 15972725

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