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

Summary

Short information

Comprehensive differential diagnostic panel for Coffin-Siris syndrome comprising 7 and altogether 22 curated genes according to the clinical signs

ID
CP0370
Number of genes
21 Accredited laboratory test
Examined sequence length
27,2 kb (Core-/Core-canditate-Genes)
68,1 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
ARID1A6858AD
ARID1B6750AD
SMARCA24773AD
SMARCA45040AD
SMARCB11158AD
SMARCE11236AD
SOX111326AD
ARID25508AD
BICRA4683AD
DPF21175AD
HDAC81134XLD
NIPBL8415AD
PHF61098XLR
PIGV1482AR
RAD211896Ass
SMARCC23459AD
SMARCD11642AD
SMC1A3702XLD
SMC33654Ass
SOX41425AD
TBC1D241680AR

Informations about the disease

Clinical Comment

Coffin-Siris Syndrome (CSS) is a rare congenital genetic multisystem disorder with hypo-/aplasia of the distal phalanx/nail of the 5th toe and/or 5th finger, developmental delays, gross facial features, hypotension, microcephaly and other malformations and heart defects. 65-80% of newborns are conspicuous with nail dysplasia. In some cases, inheritance is autosomal dominant, although new mutations are usually responsible. In at least 60% of clinically proven cases, mutations are detected in extensive panel approaches.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK131811/

 

Synonyms
  • DD Cornelia de Lange syndrome (NIPBL, SMC1A, SMC3, HDAC8, RAD21)
  • Sy: Hypoplastic/absent 5.th finger-/toenails; poor overall growth, craniofacial abnormalities
  • Sy: Ment. retard., coarse face, hypertrichosis, sparse hair; spinal anomalies + cong. heart defects
  • Allelic: Blepharophimosis-impaired intellectual development syndrome (SMARCA2)
  • Allelic: Deafness, AD 65 (TBC1D24)
  • Allelic: Deafness, AR 86 (TBC1D24)
  • Allelic: Developmental + epileptic encephalopathy 16 (TBC1D24)
  • Allelic: Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
  • Allelic: Meningioma, familial, susceptibility to (SMARCE1)
  • Allelic: Myoclonic epilepsy, infantile, familial (TBC1D24)
  • Allelic: Rhabdoid tumors, somatic (SMARCB1)
  • Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
  • Borjeson-[Forssman-Lehmann] syndrome; Mental retardation, epilepsy, endocrine disorders (PHF6)
  • Coffin-Siris syndrome 1 (ARID1B)
  • Coffin-Siris syndrome 10 (SOX4)
  • Coffin-Siris syndrome 11 (SMARCD1)
  • Coffin-Siris syndrome 12 (BICRA)
  • Coffin-Siris syndrome 2 (ARID1A)
  • Coffin-Siris syndrome 3 (SMARCB1)
  • Coffin-Siris syndrome 4 (SMARCA4)
  • Coffin-Siris syndrome 5 (SMARCE1)
  • Coffin-Siris syndrome 6; ARID2-Coffin-Siris like disorder; CS syndrome-like phenotype (ARID2)
  • Coffin-Siris syndrome 7; Coffin-Siris like disorder (DPF2)
  • Coffin-Siris syndrome 8 (SMARCC2)
  • Coffin-Siris syndrome 9 (SOX11)
  • DOORS syndrome, Deafness, Onychodystrophy, Osteodystrophy, ment. Retardation (TBC1D24)
  • Developmental delay, ID [panelapp] (ACTL6A)
  • Hyperphosphatasia with mental retardation syndrome 1 (PIGV)
  • Nicolaides-Baraitser syndrome (SMARCA2)
  • Rhabdoid tumor predisposition syndrome 1-2 (SMARCB1, SMARCA4)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Ass
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q89.7

Bioinformatics and clinical interpretation

No text defined