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

IllnessTreacher-Collins syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Treacher-Collins syndrome comprising 6 or altogether 8 curated genes according to the clinical signs

ID
TP0330
Number of genes
8 Accredited laboratory test
Examined sequence length
10,2 kb (Core-/Core-canditate-Genes)
15,3 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-GHeredity
EFTUD22919AD
POLR1C1041AR
POLR1D402AD, AR
SF3B41275AD
TCOF14467AD
DHODH1188AR
POLR1B3538AD
TXNL4A429AR

Informations about the disease

Clinical Comment

Treacher-Collins syndrome is a rare developmental disorder in which malformations of the face (eyelids, eye malpositions, colobomas, zygomatic bone, mandible defects, cleft palate), head and neck are observed. Often there is also hearing loss caused by malformations of the outer and inner ear. The disease is rarely inherited autosomal recessively, mostly autosomal dominantly, with high but incomplete penetrance and variable expressiveness. The diagnostic yield is about 97%, which is achieved almost exclusively by DNA sequence analysis, very rarely deletions are found. An inconspicuous genetic finding therefore does not mean an absolutely reliable exclusion of the clinical suspected diagnosis.

(Basic diagnostic genes: ###; additional genes: ###)

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1532/

 

Synonyms
  • Alias: Mandibulofacial dysostosis [with microcephaly]
  • Alias: Treacher Collins-Franceschetti syndrome
  • Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Acrofacial dysostosis 1, Nager type (SF3B4)
  • Burn-McKeown syndrome (TXNL4A)
  • Mandibulofacial dysostosis without limb anomalies (SF3B4)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • Postaxial acrofacial dysostosis [Miller syndrome] (DHODH)
  • Treacher Collins syndrome 1 (TCOF1)
  • Treacher Collins syndrome 2 (POLR1D)
  • Treacher Collins syndrome 3 (POLR1C)
  • Treacher Collins syndrome 4 (POLR1B)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q75.4

Bioinformatics and clinical interpretation

No text defined