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IllnessIntellectual deficit, X chromosomal, non-syndromic; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Intellectual deficit, X chromosomal, non-syndromic, comprising 1 guideline-curated gene and altogether 34 curated genes according to the clinical signs

ID
MP7896
Number of genes
30 Accredited laboratory test
Examined sequence length
54,6 kb (Core-/Core-canditate-Genes)
79,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

X NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ACSL42013XLD
AFF23936XLR
BRWD35409XLR
DLG32454XLR
FRMPD43969XL
FTSJ1990XLR
GDI11344XLD
IL1RAPL12091XLR
IQSEC24467XLD
MECP21461XL
NEXMIF4551XLD
OGT3141SMu, Sus
PAK31635XLR
RAB39B642XLR
SYP942XLR
THOC24782XLR
TSPAN7750XLR
USP9X7713XL
ZNF7112286XL
AP1S2474XLR
ATP6AP21053XLR
CASK2766XL
CLCN42283XLD
CNKSR23015XL
DDX3X1986XL
GRIA32685XLR
HCFC16108XLR
NAA10663XL
RLIM1875AD
SYN12010XL

Informations about the disease

Clinical Comment

The complexity of the brain and intellectual functioning mechanisms in humans is immense, as is the way in which intellectual disabilities can occur. The etiology of one third of the genetic cases with intellectual deficits is unknown. The increasing number of identified genes associated with mental retardation suggests that this phenotype may be the end result of the disruption of various interconnected cellular and molecular pathways. The most common disorder with X-linked intellectual deficit is Fragile X Syndrome (FXS), dominantly inherited with incomplete penetrance, affecting about 1-3/10 000 Caucasian men. The mutated FMR1 gene harbors excess CCG trinucleotide repeats, is hypermethylated and therefore does not produce protein. The X chromosome comprises a disproportionate number of additional genes (>140) whose mutations cause psychomotor retardation. The mechanisms of pathogenicity are usually based on point mutations and genomic rearrangements. X-linked inheritance can be both dominant and recessive, and expressiveness may vary depending on the mutated gene. An inconspicuous genetic finding does not mean that the suspected clinical diagnosis is excluded.

Reference: https://pubmed.ncbi.nlm.nih.gov/31898314/

 

Synonyms
  • Alias: Intellectual disability XL
  • Alias: Psycho-motor retardation XL
  • Allelic: Epilepsy, XL, with variable learning disabilities + behavior disorders (SYN1)
  • Allelic: FG syndrome 4 (CASK)
  • Allelic: Raynaud-Claes syndrome (CLCN4)
  • Asperger syndrome susceptibility, XL (NLGN3)
  • Intellectual developmental disorder + microcephaly with pontine + cereb. hypoplasia (CASK)
  • Intellectual developmental disorder, XL 107 (STEEP)
  • Intellectual developmental disorder, XL 109 (AFF2)
  • Intellectual developmental disorder, XL 50 (SYN1)
  • Lissencephaly, XL (DCX)
  • Mental retardation syndrome, XL, Siderius type (PHF8)
  • Mental retardation, XL 1/78 (IQSEC2)
  • Mental retardation, XL 104 (FRMPD4)
  • Mental retardation, XL 106 (OGT)
  • Mental retardation, XL 12/35 (THOC2)
  • Mental retardation, XL 15 (CLCN4)
  • Mental retardation, XL 21/34 (IL1RAPL1)
  • Mental retardation, XL 29 and others (ARX)
  • Mental retardation, XL 30/47 (PAK3)
  • Mental retardation, XL 41 (GDI1)
  • Mental retardation, XL 49 (CLCN4)
  • Mental retardation, XL 58 (TSPAN)
  • Mental retardation, XL 63 (ACSL4)
  • Mental retardation, XL 72 (RAB39B)
  • Mental retardation, XL 9/44 (FTSJ1)
  • Mental retardation, XL 90 (DLG3)
  • Mental retardation, XL 93 (BRWD3)
  • Mental retardation, XL 96 (SYP)
  • Mental retardation, XL 97 (ZNF711)
  • Mental retardation, XL 98 (NEXMIF)
  • Mental retardation, XL 99 (USP9X)
  • Mental retardation, XL, syndromic 13 (MECP2)
  • Mental retardation, with/-out nystagmus (CASK)
  • Subcortical laminal heterotopia, XL (DCX)
  • XL intellectual disability [MONDO:0100284, panelapp] (WNK3)
Heredity, heredity patterns etc.
  • AD
  • SMu
  • Sus
  • XL
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F84.-

Bioinformatics and clinical interpretation

No text defined