Primary microcephaly and differential diagnosis [72 genes]

Primary microcephaly refers to the clinical finding of a head circumference more than 3 standard deviations below the mean for the same age and sex, present at birth or in the first months of life. It is a static anomaly of brain development consisting of a simplification of the cerebral cortical gyration pattern and a slight reduction in the volume of the white matter, but a normal brain architecture, without alterations in neuronal migration. People with this condition almost always have mental retardation. Additional clinical features may include short stature or seizures.

Unknown

The benefits derived from a genetic diagnosis in this context are especially aimed at completing the diagnosis and family genetic counseling.

Service indicated when microcephaly is detected at birth or during the first months of life, without other data suggestive of a syndromic entity.

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Primary microcephaly and differential diagnosis

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202314043

Primary microcephaly and differential diagnosis: View panel

Virtual panel based on whole exome sequencing, aimed at the analysis of all genes of moderate, high and low evidence related to primary microcephaly, as well as those associated with differential diagnosis entities.

  • ANKLE2
  • ARFGEF2
  • ASNS
  • ASPM
  • ATR
  • BUB1
  • C7orf43
  • CDC45
  • CDC6
  • CDK5RAP2
  • CDK6
  • CDT1
  • CENPE
  • CENPJ
  • CEP135
  • CEP152
  • CEP63
  • CIT
  • COPB2
  • CTNNA2
  • DNA2
  • DONSON
  • DYNC1H1
  • DYRK1A
  • GMNN
  • KATNB1
  • KIF11
  • KIF14
  • KIF2A
  • KIF5C
  • KNL1
  • LMNB1
  • LMNB2
  • MCM5
  • MCPH1
  • MED17
  • MFSD2A
  • NCAPD2
  • NCAPD3
  • NCAPH
  • NIN
  • NSMCE2
  • NUP37
  • ORC1
  • ORC4
  • ORC6
  • PAFAH1B1
  • PCNT
  • PDCD6IP
  • PHC1
  • PHGDH
  • PLK4
  • PNKP
  • PSAT1
  • PSPH
  • RBBP8
  • RRP7A
  • SASS6
  • STIL
  • TRAIP
  • TUBA1A
  • TUBA8
  • TUBB
  • TUBB2A
  • TUBB2B
  • TUBB3
  • TUBG1
  • TUBGCP4
  • TUBGCP6
  • WDFY3
  • WDR62
  • ZNF335

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

  • Primary microcephaly.
  • Microcephaly-micromelia.
  • Meier-Gorlin, syndrome.
  • Microcephalic primordial dwarfism.
  • Microcephaly and chorioretinopathy.
  • Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability.
  • Asparagine synthetase deficiency.
  • Defects in serine biosynthesis.

References

  1. Verloes A, Drunat S, Passemard S. ASPM Primary Microcephaly. 2020 Apr 2. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK555474/