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Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...

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Macrocephaly associated with the DICER1 syndrome.

Nicholas E Khan1, Andrew J Bauer2, Leslie Doros3

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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 22, 2016
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Macrocephaly, or large head size, is a common finding in individuals with DICER1 mutations, suggesting it may be an early indicator for the DICER1 syndrome and associated tumors.

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Area of Science:

  • Genetics
  • Pediatric Oncology
  • Endocrinology

Background:

  • Germ-line mutations in DICER1 are linked to an increased risk of various tumors, notably pleuropulmonary blastoma.
  • Macrocephaly and symmetric overgrowth are observed in some patients with mosaic DICER1 mutations, but their prevalence in constitutional germ-line mutations is unclear.

Purpose of the Study:

  • To determine the prevalence of macrocephaly and overgrowth in individuals with constitutional germ-line DICER1 mutations.
  • To investigate whether head circumference is disproportionately large compared to height in DICER1 mutation carriers.

Main Methods:

  • Prospective auxology data from 67 DICER1 mutation carriers and 43 family controls were analyzed.
  • Statistical comparisons included exact tests for proportions and generalized estimating equations for continuous variables.

Main Results:

  • 42% of DICER1 mutation carriers were macrocephalic, compared to 12% of controls (P < 0.001).
  • No carriers had occipitofrontal circumference (OFC) below the third centile, unlike 5% of controls.
  • DICER1 carriers were taller than controls, but head circumference remained increased even after adjusting for height.

Conclusions:

  • Macrocephaly is a common feature in the DICER1 syndrome.
  • This finding suggests macrocephaly can serve as a subtle clinical clue for diagnosing the DICER1 syndrome.