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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessHolt-Oram syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Holt-Oram syndrome comprising 3 or 6 curated genes according to the clinical signs

ID
HP5240
Number of genes
6 Accredited laboratory test
Examined sequence length
6,8 kb (Core-/Core-canditate-Genes)
13,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • Amniotic fluid (after amnocentesis)
  • Chorionic villus
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
LMNA1995NM_170707.4AD
SALL43162NM_020436.5AD
TBX51557NM_000192.3AD
RBM8A525NM_005105.5AR
SALL13975NM_002968.3AD
TBX32172NM_005996.4AD

Informations about the disease

Clinical Comment

Holt-Oram syndrome (HOS) is characterized by skeletal abnormalities of the upper limbs (especially carpal bones, missing or finger-like thumbs, missing bones in the forearms, etc.) and cardiac problems. Some 75% of these patients have cardiac conditions that can be life-threatening, such as atrial or ventricular septal defects, conduction abnormalities and fibrillation. HOS features are similar to those of Duane radial ray syndrome, for example, and several other conditions that should be considered in the differential diagnosis. HOS is inherited in an autosomal dominant manner, with 85% of affected individuals having a pathogenic variant de novo. Sequencing of the TBX5 gene reveals the HOS mutation in >70% of cases. Differential diagnostic analysis of other genes significantly increases the yield. Nevertheless, a negative DNA result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1111/

 

Synonyms
  • DD Fanconi anemia genes: ...FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2
  • DD Fanconi anemia genes: BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, -G, -L...
  • Alias: Atriodigital dysplasia type 1
  • Alias: Heart-hand syndrome type 1
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Limb-girdle muscular dystrophy, "LGMD1R" (LMNA)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Duane-radial ray syndrome (SALL4)
  • Heart-hand syndrome, Slovenian type (LMNA)
  • IVIC syndrome (SALL4)
  • Thrombocytopenia-absent radius syndrome (RBM8A)
  • Townes-Brocks branchiootorenal-like syndrome (SALL1)
  • Townes-Brocks syndrome 1 (SALL1)
  • Ulnar-mammary syndrome (TBX3)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined