Abstract
Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome: The Stickler syndrome is among the most common heritable disorders of connective tissue. The syndrome fully expressed clinical phenotype includes the degeneration of the vitreous gel and retina, frequently associated with myopia, accompanied by non-ocular features, such as craniofacial dysmorphisms or malformations, hearing impairment, skeletal dysplasia and progressive arthropathy. So far, mutations at three collagen loci, COL2A1, COL11A1 and COL11A2, have been found in Stickler syndrome patients, with about two thirds of investigated familial cases found to be associated to COL2A1 gene mutations. We report on a three generation family in which a diagnosis of Stickler syndrome was made and linkage analysis suggested COL2A1 to be the causing gene. These data permitted us to perform two prenatal diagnosis analysing the 3′VNTR polymorphism of the involved gene on amniocytes' DNA and to provide the family with genetic counselling and paediatric support at the delivery.
| Original language | English |
|---|---|
| Pages (from-to) | 163-170 |
| Number of pages | 8 |
| Journal | Genetic Counseling |
| Volume | 13 |
| Issue number | 2 |
| Publication status | Published - 2002 |
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Keywords
- COL2A1
- Genetic counseling
- Linkage analysis
- Prenatal diagnosis
- Stickler syndrome
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. / Lisi, V.; Guala, A.; Lopez, A.; Vitali, M.; Spadoni, E.; Olivieri, C.; Danesino, Cesare; Mottes, M.
In: Genetic Counseling, Vol. 13, No. 2, 2002, p. 163-170.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome
AU - Lisi, V.
AU - Guala, A.
AU - Lopez, A.
AU - Vitali, M.
AU - Spadoni, E.
AU - Olivieri, C.
AU - Danesino, Cesare
AU - Mottes, M.
PY - 2002
Y1 - 2002
N2 - Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome: The Stickler syndrome is among the most common heritable disorders of connective tissue. The syndrome fully expressed clinical phenotype includes the degeneration of the vitreous gel and retina, frequently associated with myopia, accompanied by non-ocular features, such as craniofacial dysmorphisms or malformations, hearing impairment, skeletal dysplasia and progressive arthropathy. So far, mutations at three collagen loci, COL2A1, COL11A1 and COL11A2, have been found in Stickler syndrome patients, with about two thirds of investigated familial cases found to be associated to COL2A1 gene mutations. We report on a three generation family in which a diagnosis of Stickler syndrome was made and linkage analysis suggested COL2A1 to be the causing gene. These data permitted us to perform two prenatal diagnosis analysing the 3′VNTR polymorphism of the involved gene on amniocytes' DNA and to provide the family with genetic counselling and paediatric support at the delivery.
AB - Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome: The Stickler syndrome is among the most common heritable disorders of connective tissue. The syndrome fully expressed clinical phenotype includes the degeneration of the vitreous gel and retina, frequently associated with myopia, accompanied by non-ocular features, such as craniofacial dysmorphisms or malformations, hearing impairment, skeletal dysplasia and progressive arthropathy. So far, mutations at three collagen loci, COL2A1, COL11A1 and COL11A2, have been found in Stickler syndrome patients, with about two thirds of investigated familial cases found to be associated to COL2A1 gene mutations. We report on a three generation family in which a diagnosis of Stickler syndrome was made and linkage analysis suggested COL2A1 to be the causing gene. These data permitted us to perform two prenatal diagnosis analysing the 3′VNTR polymorphism of the involved gene on amniocytes' DNA and to provide the family with genetic counselling and paediatric support at the delivery.
KW - COL2A1
KW - Genetic counseling
KW - Linkage analysis
KW - Prenatal diagnosis
KW - Stickler syndrome
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UR - http://www.scopus.com/inward/citedby.url?scp=0035985827&partnerID=8YFLogxK
M3 - Article
C2 - 12150217
AN - SCOPUS:0035985827
VL - 13
SP - 163
EP - 170
JO - Journal de Genetique Humaine
JF - Journal de Genetique Humaine
SN - 1015-8146
IS - 2
ER -