RGD Reference Report - The mutational spectrum in Waardenburg syndrome. - Rat Genome Database

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The mutational spectrum in Waardenburg syndrome.

Authors: Tassabehji, M  Newton, VE  Liu, XZ  Brady, A  Donnai, D  Krajewska-Walasek, M  Murday, V  Norman, A  Obersztyn, E  Reardon, W 
Citation: Tassabehji M, etal., Hum Mol Genet. 1995 Nov;4(11):2131-7.
RGD ID: 1599944
Pubmed: PMID:8589691   (View Abstract at PubMed)

One hundred and thirty-four families or individuals with auditory-pigmentary syndromes such as Waardenburg syndrome (WS) or probable neurocristopathies were screened for mutations in the PAX3 and MITF genes. PAX3 mutations were found in 20/25 families with definite Type 1 WS and 1/2 with Type 3 WS, but in none of 23 with definite Type 2 WS or 36 with other neurocristopathies. The PAX3 mutations included substitutions of conserved amino acids in the paired domain or the homeodomain, splice-site mutations, nonsense mutations and frame-shifting insertions or deletions. No phenotype-genotype correlations were noted within WS1 families. With MITF, mutations likely to affect protein function were found in seven families, five of which had definite Type 2 WS. We conclude that Type 1 and Type 3 WS are allelic and are normally caused by loss of function mutations in PAX3; that Type 2 WS is heterogeneous, with about 20% of cases caused by mutations in MITF, and that individuals with auditory, pigmentary or neural crest syndromes which do not fit stringent definitions of Waardenburg syndrome are unlikely to have mutations in either the PAX3 or MITF genes. The molecular pathology of MITF/microphthalmia mutations appears to be different in humans and mice, with gene dosage having more significant effects in humans than in the mouse.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MITFHumanWaardenburg syndrome  IAGP  RGD 
MitfRatWaardenburg syndrome  ISOMITF (Homo sapiens) RGD 
MitfMouseWaardenburg syndrome  ISOMITF (Homo sapiens) RGD 
PAX3HumanWaardenburg syndrome  IAGP  RGD 
Pax3RatWaardenburg syndrome  ISOPAX3 (Homo sapiens) RGD 
Pax3MouseWaardenburg syndrome  ISOPAX3 (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mitf  (melanocyte inducing transcription factor)
Pax3  (paired box 3)

Genes (Mus musculus)
Mitf  (melanogenesis associated transcription factor)
Pax3  (paired box 3)

Genes (Homo sapiens)
MITF  (melanocyte inducing transcription factor)
PAX3  (paired box 3)


Additional Information