Cranial dysinnervation congenital disorders [54 genes]

Congenital disorders of cranial innervation are a group of disorders resulting from alterations in the development of the nervous system at the brainstem or cranial level. In the majority, there is a known genetic cause. Several of them are associated with various systemic alterations.

The main congenital disorders due to cranial denervation are:

  • Duane syndrome.
  • Moebius syndrome.
  • Congenital fibrosis of the extraocular muscles.
  • Horizontal gaze palsy with progressive scoliosis.

  • Duane retraction syndrome: 1/10,000, so between 1% and 5% of all cases of strabismus are caused by this entity (ORPHA:233).
  • Moebius syndrome: estimated at 1/50,000 (ORPHA:570).
  • Congenital fibrosis of the extraocular muscles: estimated at 1-9 / 1,000,000 (ORPHA:45358).
  • Horizontal gaze palsy with progressive scoliosis: Unknown (ORPHA:2744).

The genetic cause is behind a large number of patients affected by one of these clinical signs, and it is therefore highly advisable to complete the diagnostic process by requesting this service.

The diagnosis of one of the entities included in this panel makes it advisable to request this service.

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Cranial dysinnervation congenital disorders

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Technique: Exome

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Ref. S-202313126

Cranial dysinnervation congenital disorders: View panel

Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes with high, moderate, and low evidence related to congenital disorders of cranial innervation based on current literature.

  • ACKR3
  • ARX
  • CCNQ
  • CDH2
  • CHN1
  • COL25A1
  • CSPP1
  • DCC
  • DMPK
  • DNM1L
  • ECEL1
  • FGFR1
  • FOXL2
  • GJA5
  • GJA8
  • HOXA1
  • HOXB1
  • KCNN2
  • KIAA0586
  • KIF21A
  • MAFB
  • MED13
  • MN1
  • MYMK
  • NEUROG1
  • NFIX
  • NSMF
  • OPA1
  • PABPN1
  • PHOX2A
  • PIEZO2
  • PIK3C2A
  • PLXND1
  • POLG
  • REV3L
  • ROBO3
  • RRM2B
  • SALL1
  • SALL4
  • SLC25A4
  • STAC3
  • TBX2
  • TK2
  • TMPO
  • TOGARAM1
  • TUBA1A
  • TUBB2B
  • TUBB3
  • TWNK
  • UBA2
  • WDR26
  • ZC4H2
  • ZFHX4
  • ZMIZ1

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

  • Duane syndrome.
  • Moebius syndrome.
  • Congenital fibrosis of the extraocular muscles.
  • Horizontal gaze palsy with progressive scoliosis.

References

  1. Barry BJ, Whitman MC, Hunter DG, et al. Duane Syndrome. 2007 May 25 [Updated 2019 Aug 29]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1190/
  2. Whitman MC, Jurgens JA, Hunter DG, et al. Congenital Fibrosis of the Extraocular Muscles Overview. 2004 Apr 27 [Updated 2021 Aug 12]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1348/