Klinische FragestellungCockayne-Syndrom, Differentialdiagnose

...after exclusion of mutations in the "Cockayne syndrome genes" in a narrow sense (refer to panel CP0333)

NGS +

[[Sanger]]

Das panel sollte ein größeres Spektrum von Erkrankungen aus dem Umfeld von Cockayne Syndrom differentialdiagnostisch mit erfassen können.

• Cockayne syndrome spectrum
• Sy: Cachectic dwarfism, cutaneous photosensitivity, thin, dry hair, progeroid appearance
• Allelic: Baller-Gerold syndrome (RECQL4)
• Allelic: Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Allelic: Cerebrooculofacioskeletal syndrome 2 (ERCC2)
• Allelic: Cerebrooculofacioskeletal syndrome 3 (ERCC5)
• Allelic: Cerebrooculofacioskeletal syndrome 4 (ERCC1)
• Allelic: Colorectal cancer, somatic (EP300)
• Allelic: De Sanctis-Cacchione syndrome (ERCC6)
• Allelic: Fanconi anemia, complementation group Q (ERCC4)
• Allelic: Leukodystrophy, hypomyelin., 7, with/-out oligodontia +/- hypogonadotr. hypogonad. (POLR3A)
• Allelic: Lung cancer, susceptibility to (ERCC6)
• Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
• Allelic: Mungan syndrome (RAD21)
• Allelic: Pancreatic carcinoma, somatic (RBBP8)
• Allelic: Premature ovarian failure 11 (ERCC6)
• Allelic: Progressive external ophthalmoplegia with mtDNA deletions, AD 6 (DNA2)
• Allelic: RAPADILINO syndrome (RECQL4)
• Allelic: Spastic paraplegia 2, XL (PLP1)
• Bloom syndrome (BLM)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Cornelia de Lange syndrome 5 (HDAC8)
• Cutaneous telangiectasia + cancer syndrome, familial (ATR)
• Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
• Hutchinson-Gilford progeria (LMNA)
• Jawad syndrome (RBBP8)
• Martsolf syndrome 1 (RAB3GAP2)
• Martsolf syndrome 2 (RAB3GAP1)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Microcephaly 6, primary, AR (CENPJ)
• Microcephaly 9, primary, AR (CEP152)
• Pelizaeus-Merzbacher disease (PLP1)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• Seckel syndrome 1 (ATR)
• Seckel syndrome 10 (NSMCE2)
• Seckel syndrome 2 (RBBP8)
• Seckel syndrome 4 (CENPJ)
• Seckel syndrome 5 (CENP152)
• Seckel syndrome 6 (CEP63)
• Seckel syndrome 7 (NIN)
• Seckel syndrome 8 (DNA2)
• Seckel syndrome 9 (TRAIP)
• Trichothiodystrophy 1, photosensitive (ERCC2)
• Trichothiodystrophy 2, photosensitive (ERCC3)
• Trichothiodystrophy 3, photosensitive (GTF2H5)
• Trichothiodystrophy 4, nonphotosensitive (MPLKIP)
• UV-sensitive syndrome 1 (ERCC6)
• UV-sensitive syndrome 2 (ERCC8)
• Warburg micro syndrome 1 (RAB3GAP1)
• Warburg micro syndrome 2 (RAB3GAP2)
• Warburg micro syndrome 3 (RAB18)
• Warburg micro syndrome 4 (TBC1D20)
• Werner syndrome (WRN)
• Wiedemann-Rautenstrauch syndrome (POLR3A)
• Xeroderma pigmentosum, group A (XPA)
• Xeroderma pigmentosum, group B (ERCC3)
• Xeroderma pigmentosum, group C (XPC)
• Xeroderma pigmentosum, group D (ERCC2)
• Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
• Xeroderma pigmentosum, group F (ERCC4)
• Xeroderma pigmentosum, group G (ERCC5)
• Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
• Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)