PMID- 17204049
OWN - NLM
STAT- MEDLINE
DCOM- 20070309
LR  - 20220419
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 71
IP  - 1
DP  - 2007 Jan
TI  - Two novel translocation breakpoints upstream of SOX9 define borders of the 
      proximal and distal breakpoint cluster region in campomelic dysplasia.
PG  - 67-75
AB  - The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or 
      without XY sex reversal is caused by mutations within the SOX9 gene on 17q24.3 or 
      by chromosomal aberrations (translocations, inversions or deletions) with 
      breakpoints outside the SOX9 coding region. The previously published CD 
      translocation breakpoints upstream of SOX9 fall into two clusters: a proximal 
      cluster with breakpoints between 50-300 kb and a distal cluster with breakpoints 
      between 899-932 kb. Here, we present clinical, cytogenetic and molecular data 
      from two novel CD translocation cases. Case 1 with karyotype 
      46,XY,t(1;17)(q42.1;q24.3) has characteristic symptoms of CD, including mild 
      tibial bowing, cryptorchidism and hypospadias. By standard fluorescence in situ 
      hybridization (FISH) and by high-resolution fiber FISH, the 17q breakpoint was 
      mapped 375 kb from SOX9, defining the centromeric border of the proximal 
      breakpoint cluster region. Case 2 with karyotype 46,X,t(Y;17)(q11.2;q24.3) has 
      the acampomelic form of CD and complete XY sex reversal. By FISH and somatic cell 
      hybrid analysis, the 17q breakpoint was mapped 789 kb from SOX9, defining the 
      telomeric border of the distal breakpoint cluster region. We discuss the 
      structure of the 1 Mb cis-control region upstream of SOX9 and the correlation 
      between the position of the 14 mapped translocation breakpoints with respect to 
      disease severity and XY sex reversal.
FAU - Leipoldt, M
AU  - Leipoldt M
AD  - Institute of Human Genetics and Anthropology, University of Freiburg, Freiburg, 
      Germany.
FAU - Erdel, M
AU  - Erdel M
FAU - Bien-Willner, G A
AU  - Bien-Willner GA
FAU - Smyk, M
AU  - Smyk M
FAU - Theurl, M
AU  - Theurl M
FAU - Yatsenko, S A
AU  - Yatsenko SA
FAU - Lupski, J R
AU  - Lupski JR
FAU - Lane, A H
AU  - Lane AH
FAU - Shanske, A L
AU  - Shanske AL
FAU - Stankiewicz, P
AU  - Stankiewicz P
FAU - Scherer, G
AU  - Scherer G
LA  - eng
GR  - HD24064/HD/NICHD NIH HHS/United States
GR  - P01 HD39420/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (High Mobility Group Proteins)
RN  - 0 (SOX9 Transcription Factor)
RN  - 0 (SOX9 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Abnormalities, Multiple/diagnostic imaging/*genetics
MH  - Base Sequence
MH  - Bone Diseases, Developmental/*genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Female
MH  - High Mobility Group Proteins/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Molecular Sequence Data
MH  - Radiography
MH  - SOX9 Transcription Factor
MH  - Sequence Analysis, DNA
MH  - Transcription Factors/*genetics
MH  - Translocation, Genetic/*genetics
EDAT- 2007/01/06 09:00
MHDA- 2007/03/10 09:00
CRDT- 2007/01/06 09:00
PHST- 2007/01/06 09:00 [pubmed]
PHST- 2007/03/10 09:00 [medline]
PHST- 2007/01/06 09:00 [entrez]
AID - CGE736 [pii]
AID - 10.1111/j.1399-0004.2007.00736.x [doi]
PST - ppublish
SO  - Clin Genet. 2007 Jan;71(1):67-75. doi: 10.1111/j.1399-0004.2007.00736.x.