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IllnessCoffin-Siris syndrome, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Coffin-Siris syndrome containing 9 core/core candidate genes and altogether 22 curated genes according to the clinical signs

ID
CP0370
Number of genes
21 Accredited laboratory test
Examined sequence length
36,5 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-GReferenz-Seq.Heredity
ARID1A6858NM_006015.6AD
ARID1B6750NM_001374820.1AD
ARID25508NM_152641.4AD
DPF21175NM_006268.5AD
SMARCA24773NM_003070.5AD
SMARCA45040NM_001128849.3AD
SMARCC23459NM_003075.5AD
SMARCD11642NM_003076.5AD
SMARCE11236NM_003079.5AD
BICRA4683NM_015711.3AD
HDAC81134NM_018486.3XL
NIPBL8415NM_133433.4AD
PHF61098NM_032458.3XL
PIGV1482NM_017837.4AR
RAD211896NM_006265.3AD
SMARCB11158NM_003073.5AD
SMC1A3702NM_006306.4XL
SMC33654NM_005445.4AD
SOX111326NM_003108.4AD
SOX41425NM_003107.3AD
TBC1D241680NM_001199107.2AR

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
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined