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

IllnessSotos syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Sotos syndrome comprising 1 core gene altogether 12 curated genes according to the clinical signs

ID
SP5000
Number of genes
12 Accredited laboratory test
Examined sequence length
11,9 kb (Core-/Core-canditate-Genes)
34,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
EZH22256NM_004456.5AD
NFIX1533NM_001271043.2AD
NSD18091NM_022455.5AD
APC26912NM_005883.3AR
CDKN1C951NM_000076.2AD, Sus
EED2100NM_003797.5AD
GPC31743NM_004484.4XLR
GPC41671NM_001448.3XLR
PTCH14344NM_000264.5AD
PTEN1212NM_000314.8AD
SUFU1455NM_016169.4AR, AD
SUZ122220NM_015355.4AD

Informations about the disease

Clinical Comment

Sotos syndrome patients show excessive physical growth in the first years of life, they are often larger and heavier at birth with macrocephaly. The disease is often accompanied by delayed motor and social development, with mild cognitive and speech disorders. The three cardinal features (characteristic face, learning disability, overgrowth of body and/or head) can usually be accompanied by ten main symptoms (heart defect, advanced bone age, joint hyperextensibility, etc.) and >30 other associated features. Although most cases of Sotos syndrome are sporadic, familial cases are well known. Virtually all patients with NSD1 mutations are diagnosed with Sotos Syndrome; on the other hand, NSD1 gene mutations are completely penetrating and expressivity is highly variable. Individuals with the same pathogenic variant may be affected differently even within the same family. The Sotos 2 (Malan) syndrome is less common. The diagnostic yield is not known more precisely. Therefore, an inconspicuous genetic finding certainly does not exclude the clinical suspicion, especially since differential diagnosis with (clinically closely) related overgrowth syndromes can be very difficult.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1479/

 

Synonyms
  • Alias: Cerebral gigantism
  • Alias: Chromosome 5q35 deletion syndrome
  • Alias: Sotos sequence; Sotos' syndrome
  • Allelic: Basal cell carcinoma, somatic (PTCH1)
  • Allelic: Basal cell nevus syndrome (PTCH1)
  • Allelic: Basal cell nevus syndrome (SUFU)
  • Allelic: Cortical dysplasia, complex, with other brain malformations 10 (APC2)
  • Allelic: Cowden syndrome 1 (PTEN)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Holoprosencephaly 7 (PTCH1)
  • Allelic: Medulloblastoma, desmoplastic (SUFU)
  • Allelic: Meningioma (PTEN)
  • Allelic: Meningioma, familial, susceptibility to (SUFU)
  • Allelic: Prostate cancer, somatic (PTEN)
  • Allelic: Wilms tumor, somatic (GPC3)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Cohen-Gibson syndrome (EED)
  • IMAGE syndrome (CDKN1C)
  • Imagawa-Matsumoto syndrome (SUZ12)
  • Joubert syndrome 32 (SUFU)
  • Keipert syndrome (GPC4)
  • Lhermitte-Duclos syndrome (PTEN)
  • Macrocephaly/autism syndrome (PTEN)
  • Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
  • Sotos syndrome 1 (NSD1)
  • Sotos syndrome 2 (NFIX)
  • Sotos syndrome 3 (APC2)
  • Weaver syndrome (EZH2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined