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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMicrocephaly [patients without Seckel symptoms], differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly [patients without Seckel symptoms] containing 6 guideline-curated genes and altogether 28 curated genes

ID
MP0972
Number of genes
13 Accredited laboratory test
Examined sequence length
28,8 kb (Core-/Core-canditate-Genes)
58,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ASPM10434NM_018136.5AR
CENPJ4017NM_018451.5AR
CEP1524965NM_014985.4AR
MCPH12508NM_024596.5AR
NBN2265NM_002485.5AR
WDR624572NM_001083961.2AR
CDK5RAP25682NM_018249.6AR
CDK6981NM_001259.8AR
CEP1353423NM_025009.5AR
CIT6307NM_001206999.2AR
CTNNB12346NM_001904.4AD
KNL17029NM_170589.5AR
STIL3867NM_001048166.1AR

Informations about the disease

Clinical Comment

Primary microcephaly (MCPH) is a disorder of brain development that causes occipitofrontal head circumference to be significantly below the mean for (gestational) age and sex. MCPH has many non-genetic causes, while genetic microcephaly/syndromes are relatively rare overall. Genes mutated in microcephaly encode centrosomal proteins (centriole biogenesis) and many different mechanistic categories, especially DNA replication and repair. The severity of developmental delay/intellectual disability appears to correlate with the severity of primary microcephaly. This microcephaly panel is compiled according to the guidelines (see below) and summarizes the relevant genes of several categories. All classical modes of inheritance are observed in microcephaly, but multifactorial events are quite prominent. The diagnosis rates vary between the microcephaly categories and depend primarily on the clinical preliminary examination results. An inconspicuous genetic finding does not mean exclusion of the clinical suspected diagnosis.

Reference: https://www.awmf.org/uploads/tx_szleitlinien/022-028l_S2k_Klassifikation_Diagnostik_Mikrozephalie_2019-11.pdf

 

Synonyms
  • AR primary microcephaly (AGMO)
  • Allelic: Aplastic anemia (NBN)
  • Allelic: Epilepsy, progressive myoclonic, 9 (LMNB2)
  • Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Leukodystrophy, adult-onset, AD (LMNB1)
  • Allelic: Lipodystrophy, partial, acquired, susceptibility to (LMNB2)
  • Allelic: Microhydranencephaly (NDE1)
  • Allelic: Seckel syndrome 4 (CENPJ)
  • Allelic: Seckel syndrome 5 (CEP152)
  • Allelic: Ventricular fibrillation, paroxysmal familial, 2 (DPP6)
  • Lissencephaly 4, with microcephaly (NDE1)
  • Meckel syndrome 12 (KIF14)
  • Mental retardation, AD 19 (CTNNB1)
  • Mental retardation, AD 33 (DPP6)
  • Microcephaly + chorioretinopathy, AR, 1 (TUBGCP6)
  • Microcephaly 1, primary, AR (MCPH1)
  • Microcephaly 10, primary, AR (ZNF335)
  • Microcephaly 12, primary, AR (CDK6)
  • Microcephaly 14, primary, AR (SASS6)
  • Microcephaly 16, primary, AR (ANKLE2)
  • Microcephaly 17, primary, AR (CIT)
  • Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
  • Microcephaly 20, primary, AR (KIF14)
  • Microcephaly 21, primary, AR (NCAPD2)
  • Microcephaly 22, primary, AR (NCAPD3)
  • Microcephaly 25, primary, AR (TRAPPC14)
  • Microcephaly 26, primary, AD (LMNB1)
  • Microcephaly 27, primary, AD (LMNB2)
  • Microcephaly 29, primary, AR (PDCD6IP)
  • Microcephaly 3, primary, AR (CDK5RAP2)
  • Microcephaly 4, primary, AR (KNL1)
  • Microcephaly 5, primary, AR (ASPM)
  • Microcephaly 6, primary, AR (CENPJ)
  • Microcephaly 7, primary, AR (STIL)
  • Microcephaly 8, primary, AR (CEP135)
  • Microcephaly 9, primary, AR (CEP152)
  • Microcephaly and chorioretinopathy, AR, 2 (PLK4)
  • Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
  • Nijmegen breakage syndrome (NBN)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined