Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome

Genetic Counseling

Volumn 13, Issue 2, 2002, Pages 163-170

  Lisi, V ^a   Guala, A ^a   Lopez, A ^a   Vitali, M ^a   Spadoni, E ^a   Olivieri, C ^a   Danesino, Cesare ^a   Mottes, M ^a  

^a Biologia Generale e Genetica Medica   (Italy)

Author keywords

COL2A1; Genetic counseling; Linkage analysis; Prenatal diagnosis; Stickler syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTHROPATHY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; CONNECTIVE TISSUE DISEASE; CRANIOFACIAL MALFORMATION; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC LINKAGE; HEARING IMPAIRMENT; HUMAN; LINKAGE ANALYSIS; MALE; MYOPIA; PHENOTYPE; PRENATAL DIAGNOSIS; RETINA DISEASE; STICKLER SYNDROME; VITREOUS DISEASE; CASE REPORT; EYE DISEASE; GENETICS; INFANT; MUTATION; NEWBORN; PEDIGREE; SYNDROME;

ADOLESCENT; CASE REPORT; COLLAGEN TYPE II; CONNECTIVE TISSUE DISEASES; EYE DISEASES, HEREDITARY; FEMALE; HUMAN; INFANT; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; PRENATAL DIAGNOSIS; SUPPORT, NON-U.S. GOV'T; SYNDROME; HUMANS;

COL2A1 PROTEIN, HUMAN; COLLAGEN TYPE 2;

EID: 0035985827     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome
2. Characterization of the COL2A1 VNTR polymorphism
3. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene
4. Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: Implications for genetic counselling
5. Marshall syndrome associated with a splicing defect at the COL11A1 locus
6. Stickler syndrome: Further mutations in COL11A1 and evidence for additional locus heterogeneity
7. The prenatal diagnosis of Robin anomalad
8. Amplification of the COL2A1 3′ variable region used for segregation analysis in a family with the Stickler syndrome
9. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen
10. Clinical and Molecular genetics of Stickler syndrome
11. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey
12. Correlation of linkage data with phenotype in eight families with Stickler Syndrome
13. Detection of sequence variants in the gene for human type 11 procollagen (COL2A1) by direct sequencing of polymerase chain reaction amplified genomic DNA