Information on subject 103051

Basic details

Sex: Male

Country: Finland

Population: Finnish

Family ID: 215095tree icon

Father: 103052

Mother: 103053

Consanguinity: No

Clin. status: Affected

Age of death: 9.0

Ref.ID & pub.codes
  • 2021 [771] Fam.F1:II.7(P1)

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
SCBMS Seizures, cortical blindness, microcephaly syndrome ARdict. icon 9.00 0.01

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
DIAPH1 EX7+1G>A IN7 c.684+1G>A splice_donor_variant Pathogenic HOMdict. icon Yes, alone

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
Unk. Cognitive impairmentarrow icon Yes
9.00 Decreased IgA levelsarrow icon No
9.00 Decreased IgG levelsarrow icon No
Unk. Recurrent lower respiratory tract infectionsarrow icon Yes severe recurrent
9.00 Decreased IgM levelsarrow icon Yes
9.00 Reduced proportion of CD4 T cellsarrow icon No
Unk. Otitis mediaarrow icon Yes severe recurrent
0.17 Seizuresarrow icon Yes severe recurrent
9.00 B-cell lymphomaarrow icon Yes severe acute
Unk. Lymphopeniaarrow icon No
Unk. Encephalopathyarrow icon Yes
6.00 Recurrent impetigoarrow icon Yes chronic
3.00 Herpes Simplex Virus Infectionarrow icon Yes severe recurrent
0.70 Varicella zoster virus infectionarrow icon Yes severe acute
0.70 (unusual) Viral infectionarrow icon Yes severe recurrent
Unk. Oral candidiasisarrow icon Yes recurrent
6.00 Disseminated nontuberculous mycobacterial infectionarrow icon Yes severe acute
4.00 Molluscum contagiosumarrow icon Yes severe recurrent
0.01 Progressive microcephalyarrow icon Yes severe
Unk. Abnormality of visual evoked potentialsarrow icon Yes
0.25 Motor delayarrow icon Yes
Unk. Intellectual disability, profoundarrow icon Yes severe
Unk. Kyphoscoliosisarrow icon Yes
Unk. Skeletal muscle atrophyarrow icon Yes
1.00 Abnormal brainstem MRI signal intensityarrow icon Yes chronic
Unk. Decreased lymphocyte proliferation in response to mitogensarrow icon Yes chronic
Unk. Cerebral visual impairmentarrow icon Yes
Unk. Atelectasisarrow icon Yes

Cell counts

Age Cell_type Cells/ul Ref.range Relative(%) Ref.range(%) Result
9.00 B cellsarrow icon 437 80 - 616 Normal
9.00 T cellsarrow icon 2100 742 - 2750 Normal
9.00 Lymphocytesarrow icon 2100 1200 - 3500 Normal
9.00 Leukocytesarrow icon 8000 4500 - 13500 Normal
9.00 NK cellsarrow icon 624 84 - 724 Normal
9.00 Neutrophilsarrow icon 4800 4500 - 13500 Normal
9.00 CD8 T cellsarrow icon 624 220 - 1129 Normal
9.00 CD4 T cellsarrow icon 582 404 - 1612 Normal

* Measured under treatment or HSCT.

Plasma proteins

Age Molecule[ℹ] Value Ref.range Result
9.00 IgAarrow icon 96 88 - 484 mg/dL Normal
9.00 IgGarrow icon 1190 677 - 1500 mg/dL Normal
9.00 IgMarrow icon 18 88 - 484 mg/dL Low
9.00 IgEarrow icon 4 1 - 130 IU/ml Normal

[ℹ] shows name on hover
* Measured during IVIG or other treatment.

Phenotypic & functional assays

Age Parameter[ℹ] Result* Cells Methods[ℹ] Stimuli Ref.
Unk. DIAPH1 mRNA expression aberrant Fibroblastsarrow icon cDNAsq Basal 771
Unk. DIAPH1 protein expression absent Fibroblastsarrow icon WB Basal 771
Unk. Complex IV abundance decreased Fibroblastsarrow icon WB Basal 771

[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover