PMID- 10486316
OWN - NLM
STAT- MEDLINE
DCOM- 20001002
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 4
DP  - 1999 Oct
TI  - Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome,
      but other mutations cause overlapping Marshall/Stickler phenotypes.
PG  - 974-83
AB  - Stickler and Marshall syndromes are dominantly inherited chondrodysplasias
      characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing
      deficit. Since the characteristics of these syndromes overlap, it has been argued
      whether they are distinct entities or different manifestations of a single
      syndrome. Several mutations causing Stickler syndrome have been found in the
      COL2A1 gene, and one mutation causing Stickler syndrome and one causing Marshall 
      syndrome have been detected in the COL11A1 gene. We characterize here the genomic
      structure of the COL11A1 gene. Screening of patients with Stickler,
      Stickler-like, or Marshall syndrome pointed to 23 novel mutations.
      Genotypic-phenotypic comparison revealed an association between the Marshall
      syndrome phenotype and splicing mutations of 54-bp exons in the C-terminal region
      of the COL11A1 gene. Null-allele mutations in the COL2A1 gene led to a typical
      phenotype of Stickler syndrome. Some patients, however, presented with phenotypes
      of both Marshall and Stickler syndromes.
FAU - Annunen, S
AU  - Annunen S
AD  - Collagen Research Unit, Biocenter and Department of Medical Biochemistry,
      University of Oulu, Oulu, Finland.
FAU - Korkko, J
AU  - Korkko J
FAU - Czarny, M
AU  - Czarny M
FAU - Warman, M L
AU  - Warman ML
FAU - Brunner, H G
AU  - Brunner HG
FAU - Kaariainen, H
AU  - Kaariainen H
FAU - Mulliken, J B
AU  - Mulliken JB
FAU - Tranebjaerg, L
AU  - Tranebjaerg L
FAU - Brooks, D G
AU  - Brooks DG
FAU - Cox, G F
AU  - Cox GF
FAU - Cruysberg, J R
AU  - Cruysberg JR
FAU - Curtis, M A
AU  - Curtis MA
FAU - Davenport, S L
AU  - Davenport SL
FAU - Friedrich, C A
AU  - Friedrich CA
FAU - Kaitila, I
AU  - Kaitila I
FAU - Krawczynski, M R
AU  - Krawczynski MR
FAU - Latos-Bielenska, A
AU  - Latos-Bielenska A
FAU - Mukai, S
AU  - Mukai S
FAU - Olsen, B R
AU  - Olsen BR
FAU - Shinno, N
AU  - Shinno N
FAU - Somer, M
AU  - Somer M
FAU - Vikkula, M
AU  - Vikkula M
FAU - Zlotogora, J
AU  - Zlotogora J
FAU - Prockop, D J
AU  - Prockop DJ
FAU - Ala-Kokko, L
AU  - Ala-Kokko L
LA  - eng
SI  - GENBANK/AF101079
SI  - GENBANK/AF101080
SI  - GENBANK/AF101081
SI  - GENBANK/AF101082
SI  - GENBANK/AF101083
SI  - GENBANK/AF101084
SI  - GENBANK/AF101085
SI  - GENBANK/AF101086
SI  - GENBANK/AF101087
SI  - GENBANK/AF101088
SI  - GENBANK/AF101089
SI  - GENBANK/AF101090
SI  - GENBANK/AF101091
SI  - GENBANK/AF101092
SI  - GENBANK/AF101093
SI  - GENBANK/AF101094
SI  - GENBANK/AF101095
SI  - GENBANK/AF101096
SI  - GENBANK/AF101097
SI  - GENBANK/AF101098
SI  - GENBANK/AF101099
SI  - GENBANK/AF101100
SI  - GENBANK/AF101101
SI  - GENBANK/AF101102
SI  - GENBANK/AF101103
SI  - GENBANK/AF101104
SI  - GENBANK/AF101105
SI  - GENBANK/AF101106
SI  - GENBANK/AF101107
SI  - GENBANK/AF101108
PT  - Journal Article
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 9007-34-5 (Collagen)
SB  - IM
MH  - Abnormalities, Multiple/*genetics/physiopathology
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Collagen/*genetics
MH  - DNA Mutational Analysis
MH  - Exons/*genetics
MH  - Female
MH  - Genotype
MH  - Hearing Loss, Sensorineural/genetics/physiopathology
MH  - Humans
MH  - Introns/genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation/*genetics
MH  - Myopia/genetics/physiopathology
MH  - Osteochondrodysplasias/*genetics/physiopathology
MH  - Phenotype
MH  - RNA Splicing/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Deletion/genetics
MH  - Syndrome
PMC - PMC1288268
EDAT- 1999/09/16 09:00
MHDA- 2000/10/07 11:01
CRDT- 1999/09/16 09:00
PHST- 1999/09/16 09:00 [pubmed]
PHST- 2000/10/07 11:01 [medline]
PHST- 1999/09/16 09:00 [entrez]
AID - S0002-9297(07)62600-7 [pii]
AID - 10.1086/302585 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585.