✦ LIBER ✦

Correlation of linkage data with phenotype in eight families with Stickler syndrome

✍ Scribed by Wilkin, Douglas J.; Mortier, Geert R.; Johnson, Carey L.; Jones, Marilyn C.; De Paepe, Anne; Shohat, Mordechai; Wildin, Robert S.; Falk, Rena E.; Cohn, Daniel H.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 42 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981102)80:2<121::aid-ajmg6>3.0.co;2-m

No coin nor oath required. For personal study only.

✦ Synopsis

The clinical findings of eight families with Stickler syndrome were analyzed and compared with the results of linkage studies using a marker for the type II collagen gene (COL2A1). In six families, there was linkage of the phenotype to COL2A1. The manifestations of the affected individuals were similar to those of the original Stickler syndrome family [Stickler et al., Mayo. Clin. Proc. 40:433-455, 1965] and resembled the phenotype of the previously reported individuals or families with Stickler syndrome in which a dominant mutation in the COL2A1 gene has been identified. Linkage to COL2A1 was excluded in the two remaining families. The most striking difference between these two types of families was the absence of severe myopia and retinal detachment in the two unliked families.

In the COL2A1 unlinked families, linkage of the phenotype to genes (COL11A1 and COL11A2) that encode pro␣ chains of type XI collagen, a minor cartilage-specific collagen, was also excluded. Since Stickler syndrome can be produced by mutations in COL2A1, COL11A1, and COL11A2, our data suggest that there is at least a fourth locus for Stickler syndrome. Am.

📜 SIMILAR VOLUMES

Genotype, molecular phenotype, and cogni

Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome

✍ Kaufmann, Walter E.; Abrams, Michael T.; Chen, Wilma; Reiss, Allan L. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 2 views

The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive profile. Following the characterization of FMRP, the FMR1 gene product, preliminary correlations betw

SMNT and NAIP mutations in Canadian fami

SMNT and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): Genotype/phenotype correlations with disease severity

✍ Simard, Louise R.; Rochette, Camille; Semionov, Alexandre; Morgan, Kenneth; Vana 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 2 views

Childhood-onset spinal muscular atrophy (SMA) is an autosomal recessive neuropathy characterized by selective degeneration of alpha-motor neuron cells of the spinal cord. Age of onset and motor development varies greatly among patients, but the molecular basis of this variability remains unclear. Th

FG syndrome: Report of three new familie

FG syndrome: Report of three new families with linkage to xq12-q22.1

✍ Graham, John M.; Tackels, Darci; Dibbern, Kurt; Superneau, Duane; Rogers, Curtis 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB

FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974 in five related males with mental retardation, disproportionately large heads, imperforate anus, and congenital hypotonia. Partial agenesis of the corpus callosum was noted in at least

Methylenetetrahydrofolate reductase defi

Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome

✍ Arn, Pamela H.; Williams, Charles A.; Zori, Roberto T.; Driscoll, Daniel J.; Ros 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 1 views

Deficiency of methylenetetrahydrofolate reductase (MTHFR) is associated with a variable phenotype that includes mental retardation, gait abnormalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome. We report on a patient with MTHFR deficiency who

Expansion of the phenotype in Hennekam s

Expansion of the phenotype in Hennekam syndrome: A case with new manifestations

✍ Angle, Brad; Hersh, Joseph H. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 2 views

We report on a female with lymphedema, facial anomalies, intestinal lymphangiectasia, and moderate mental retardation consistent with the diagnosis of Hennekam syndrome. In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congen

Witch Rhymes With ...

✍ Larry Kent 📂 Fiction 🏛 Piccadilly 🌐 English ⚖ 133 KB 👁 2 views

When Larry Kent said goodbye to Eve Delmar, she was alive. The next morning she turned up dead--shot to death. But who wanted to kill her, and why? The chief suspect was her estranged husband ... but he was a friend of Larry's, and when he denied murder, Larry believed him. So he set out to find t