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Betegségjelentés · Neurological

Autosomal Recessive Primary Microcephaly

Whole genome sequencing reads the ASPM, CDK5RAP2, STIL, KIF14, WDR62, CEP152 and CPAP genes for inherited changes that cause a small head and brain present from birth, usually with intellectual disability.

A betegségjelentés olyan ritka variánsokat keres, amelyekről ismert, hogy okozzák az általa lefedett betegségeket.

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A(z) condition ismertetése

A group of inherited conditions in which the brain and head grow much smaller than usual before birth, usually with intellectual disability but otherwise few other health problems. This report covers the ASPM, CDK5RAP2, STIL, KIF14, WDR62, CEP152 and CPAP genes.

Autosomal recessive primary microcephaly is a group of inherited conditions in which the brain and head grow much smaller than usual before birth. A small head is usually present from birth and stays well below average throughout life. Intellectual disability is common, but there are usually few other health problems.

The conditions are caused by changes in both copies of one of several genes that control how brain stem cells divide during fetal development. This report covers seven genes. CEP152 and CPAP are also linked to Seckel syndrome, a related form that can include short stature.

The condition is inherited in an autosomal recessive way. Genetic counselling and carrier testing of relatives clarify the 1 in 4 recurrence risk, and testing in a future pregnancy is possible once the family's changes are known. Because many other genes can cause microcephaly, a negative result for these genes does not rule out a genetic cause.

A vizsgált 4 betegség

Autoszomális recesszív

Caused by changes in both copies of one of many genes that control how brain stem cells divide during fetal development, including ASPM, CDK5RAP2, STIL and KIF14.

Tünetek és jelek

A small head size is present at birth and stays well below average throughout life, sometimes with a sloping forehead. Mild to moderate intellectual disability and speech delay are common, while motor development is often less affected. Less often there are seizures, short stature or brain structure differences on MRI.

Mit változtat a diagnózis

Support focuses on developmental, educational and speech therapy, with seizure treatment when needed. Genetic counselling and carrier testing of relatives clarify the 1 in 4 recurrence risk, and testing in a future pregnancy is possible once both familial variants are known.

Vizsgált gének

Más néven

MCPH; microcephalia vera; microcephaly vera; true microcephaly

Szintén szereplő specifikus formák

  • Primary Microcephaly 2 (WDR62)

    Autoszomális recesszív

    Caused by changes in both copies of WDR62, which is linked to primary microcephaly (MCPH2).

    WDR62

  • Microcephaly With or Without Short Stature (CEP152)

    Autoszomális recesszív

    Caused by changes in both copies of CEP152, which is needed to build centrioles, the structures that organise cell division. Depending on the variants, it causes primary microcephaly or Seckel syndrome, a related form that can include short stature.

    CEP152, CPAP

  • Microcephaly 6 With or Without Short Stature (CPAP)

    Autoszomális recesszív

    Caused by changes in both copies of CPAP (previously known as CENPJ), which is linked to primary microcephaly (MCPH6) and Seckel syndrome (SCKL4).

    CPAP

32 kapcsolódó altípust tartalmaz ↓
  • microcephalic primordial dwarfism due to ZNF335 deficiency
  • microcephaly 1, primary, autosomal recessive
  • microcephaly 11, primary, autosomal recessive
  • microcephaly 12, primary, autosomal recessive
  • microcephaly 13, primary, autosomal recessive
  • microcephaly 14, primary, autosomal recessive
  • microcephaly 15, primary, autosomal recessive
  • microcephaly 16, primary, autosomal recessive
  • microcephaly 17, primary, autosomal recessive
  • microcephaly 19, primary, autosomal recessive
  • microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • microcephaly 20, primary, autosomal recessive
  • microcephaly 21, primary, autosomal recessive
  • microcephaly 22, primary, autosomal recessive
  • microcephaly 23, primary, autosomal recessive
  • microcephaly 24, primary, autosomal recessive
  • microcephaly 25, primary, autosomal recessive
  • microcephaly 28, primary, autosomal recessive
  • microcephaly 29, primary, autosomal recessive
  • microcephaly 3, primary, autosomal recessive
  • microcephaly 30, primary, autosomal recessive
  • microcephaly 31, primary, autosomal recessive
  • microcephaly 4, primary, autosomal recessive
  • microcephaly 5, primary, autosomal recessive
  • microcephaly 6 with or without short stature
  • microcephaly 6, primary, autosomal recessive
  • microcephaly 7, primary, autosomal recessive
  • microcephaly 8, primary, autosomal recessive
  • microcephaly 9, primary, autosomal recessive
  • microcephaly with or without short stature
  • microcephaly with simplified gyral pattern
  • Seckel syndrome 4
MONDO:0016660Orphanet 2512MedGen 777995Források: [2][1][3]

Miért a teljes genom szekvenálás

Autosomal recessive microcephaly has several genetic causes, and an inherited cause matters for relatives. Whole genome sequencing checks seven genes in one test.

Seven genes, one test

Changes in any of seven genes can cause primary microcephaly, and whole genome sequencing reads all of them in the same test rather than one gene at a time. A negative result does not rule out a cause in a gene outside this report, as other genes can also be involved.

Carrier testing for relatives

Both parents of an affected child are usually carriers, so each child of two carriers has a 1 in 4 chance of being affected. Once the familial changes are known, carrier testing for relatives and prenatal testing in a pregnancy at increased risk are possible.

Korlátok

  • Primary microcephaly can be caused by many different genes, including MCPH1, and not all of them are covered by this report. A negative result for the genes listed here does not rule out a genetic cause of microcephaly.

Hivatkozások

  1. Autosomal recessive primary microcephaly. MedlinePlus Genetics
  2. Verloes A, Drunat S, Passemard S, 2020. ASPM Primary Microcephaly. GeneReviews
  3. Verloes A, Drunat S, Gressens P, Passemard S, 2009. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. GeneReviews
  4. Hamada N, AlAbdi L, Uehara T, Sasikarn L, Nishijo T, Suliman-Lavie R et al., 2026. Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities. EMBO molecular medicine
  5. Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S et al., 2010. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. American journal of human genetics

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