Autosomal recessive primary microcephaly

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Classification according to ICD-10
Q02 Microcephaly
ICD-10 online (WHO version 2019)

The autosomal recessive primary microcephaly is a rare congenital disease with disruption of brain development and the main features of a reduced head circumference at birth without pronounced anomalies and a varying degrees of intellectual disability .

Synonyms are: true microcephaly; Latin Microcephalia vera ; MCPH , acronym for M ikro C ephalie , P rimäre, H ereditäre

distribution

The frequency is unknown; about 200 families have been reported to date. The disease is increasingly found in northern Pakistan , Asia and the Middle East . Inheritance is autosomal - recessive .

Causes and classification

The following subtypes can be distinguished on the basis of detected mutations :

  • MCPH1 (Microcephaly 1, primary, autosomal recessive; PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION; PREMATURE CHROMOSOME CONDENSATION SYNDROME; PCC SYNDROME), mutations in the MCPH1 gene at gene location 8p23.1
  • MCPH2 (MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS), mutations in the WDR62 gene at 19q13.12
  • MCPH3 , mutations in the CDK5RAP2 gene at 9q33.2
  • MCPH4 mutations in the CASC5 gene at 15q15.1
  • MCPH5 with mutations in the ASPM gene at 1q31.3
  • MCPH6 with mutations in the CENPJ gene at 13q12.12-q12.13
  • MCPH7 with mutations in the STIL gene at 1p33
  • MCPH8 with mutations in the CEP135 gene at 4q12
  • MCPH9 with mutations in the CEP152 gene at 15q21.1
  • MCPH11 with mutations in the PHC1 gene at 12p13.31
  • MCPH12 with mutations in the CDK6 gene at 7q21.2
  • MCPH14 with mutations in the SASS6 gene at 1p21.2
  • MCPH15 with mutations in the MFSD2A gene at 1p34.2

Clinical manifestations

Clinical criteria are:

  • Head circumference reduced by at least 2 standard deviations at birth .
  • Slow skull growth with head circumference lagging behind the percentiles
  • Mild to moderate, not increasing mental impairment.
  • Delayed motor and language development
  • No neurological disorders
  • Often hyperactivity, in 10% seizures

Diagnosis

The diagnosis is based on clinical findings. The MRI shows a proportional scaled, otherwise largely unremarkable brain. If the mutation is known, prenatal diagnosis is possible.

literature

  • M. Barbelanne, WY Tsang: Molecular and cellular basis of autosomal recessive primary microcephaly. In: BioMed research international. Vol. 2014, 2014, p. 547986, doi: 10.1155 / 2014/547986 , PMID 25548773 , PMC 4274849 (free full text) (review).
  • S. Mahmood, W. Ahmad, MJ Hassan: Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. In: Orphanet Journal of Rare Diseases. Vol. 6, 2011, p. 39, doi: 10.1186 / 1750-1172-6-39 , PMID 21668957 , PMC 3123551 (free full text) (review).
  • C. Geoffrey Woods, Jacquelyn Bond, Wolfgang Enard: Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings . In: The American Journal of Human Genetics . tape 76 , no. 5 , May 2005, pp. 717 , doi : 10.1086 / 429930 .

Individual evidence

  1. ↑ a b c d Microcephaly, primary, autosomal recessive. In: Orphanet (Rare Disease Database).
  2. ↑ a b Genetics Home Reference
  3. ↑ Microcephaly 1, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Microcephaly 3, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Microcephaly 4, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ Microcephaly 5, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ Microcephaly 6, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  9. ↑ Microcephaly 7, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  10. ↑ Microcephaly 8, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  11. ↑ Microcephaly 9, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  12. ↑ Microcephaly 11, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  13. ↑ Microcephaly 12, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  14. ↑ Microcephaly 14, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  15. ↑ Microcephaly 15, primary, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)

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