PMID- 10441344
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 9
DP  - 1999 Sep
TI  - A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 
      dysfunction causes different neurocristopathies.
PG  - 1785-9
AB  - The Yemenite deaf-blind hypopigmentation syndrome was first observed in a
      Yemenite sister and brother showing cutaneous hypopigmented and hyperpigmented
      spots and patches, microcornea, coloboma and severe hearing loss. A second case, 
      observed in a girl with similar skin symptoms and hearing loss but without
      microcornea or coloboma, was reported as a mild form of this syndrome. Here we
      show that a SOX10 missense mutation is responsible for the mild form, resulting
      in a loss of DNA binding of this transcription factor. In contrast, no SOX10
      alteration could be found in the other, severe case of the Yemenite deaf-blind
      hypopigmentation syndrome. Based on genetic, clinical, molecular and functional
      data, we suggest that these two cases represent two different syndromes.
      Moreover, as mutations of the SOX10 transcription factor were previously
      described in Waardenburg-Hirschsprung disease, these results show that SOX10
      mutations cause various types of neurocristopathy.
FAU - Bondurand, N
AU  - Bondurand N
AD  - Genetique Moleculaire et Physiopathologie, INSERM U468 et Laboratoire de
      Biochimie et Genetique Moleculaire, AP-HP, Hopital Henri Mondor, 94010 Creteil
      Cedex, France.
FAU - Kuhlbrodt, K
AU  - Kuhlbrodt K
FAU - Pingault, V
AU  - Pingault V
FAU - Enderich, J
AU  - Enderich J
FAU - Sajus, M
AU  - Sajus M
FAU - Tommerup, N
AU  - Tommerup N
FAU - Warburg, M
AU  - Warburg M
FAU - Hennekam, R C
AU  - Hennekam RC
FAU - Read, A P
AU  - Read AP
FAU - Wegner, M
AU  - Wegner M
FAU - Goossens, M
AU  - Goossens M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (HCFC1 protein, human)
RN  - 0 (High Mobility Group Proteins)
RN  - 0 (Host Cell Factor C1)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Octamer Transcription Factor-1)
RN  - 0 (POU2F1 protein, human)
RN  - 0 (SOX10 protein, human)
RN  - 0 (SOXE Transcription Factors)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Amino Acid Sequence
MH  - Cells, Cultured
MH  - Craniofacial Abnormalities/genetics
MH  - DNA Mutational Analysis
MH  - DNA-Binding Proteins/chemistry/*genetics/metabolism
MH  - High Mobility Group Proteins/chemistry/*genetics
MH  - Host Cell Factor C1
MH  - Humans
MH  - Hypopigmentation/*genetics
MH  - Models, Molecular
MH  - Molecular Sequence Data
MH  - Nuclear Proteins/analysis
MH  - Octamer Transcription Factor-1
MH  - Polymorphism, Single-Stranded Conformational
MH  - Protein Binding/genetics
MH  - Protein Structure, Tertiary
MH  - SOXE Transcription Factors
MH  - Syndrome
MH  - Transcription Factors/genetics/metabolism
MH  - Yemen
EDAT- 1999/08/11 00:00
MHDA- 1999/08/11 00:01
CRDT- 1999/08/11 00:00
PHST- 1999/08/11 00:00 [pubmed]
PHST- 1999/08/11 00:01 [medline]
PHST- 1999/08/11 00:00 [entrez]
AID - ddc222 [pii]
AID - 10.1093/hmg/8.9.1785 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 Sep;8(9):1785-9. doi: 10.1093/hmg/8.9.1785.