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Biomedical subjects

D Steinberger

Publications and source records attributed to D Steinberger.

31 records · Page 2Linked to original sources
PubMed1996

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

We describe a mutation in the FGFR2 gene in affected members of a large family with inherited autosomal dominant craniosynostosis. The mutation is a G1044A transition at codon 344 of exon B of the gene and results in abnormal splicing of the FGFR2 transcript. The phenotypic effect of the mutation varies greatly. It ranges from minor anomalies such as slight hypertelorism and maxillary hypoplasia to severe manifestations such as brachycephaly and dolichocephaly. The severe cases required surgery because of increased intracranial pressure. The patients cannot be assigned clinically to one of the known craniosynostotic syndromes with mutations in FGFR2, e.g., Crouzon, Pfeiffer, or Jackson-Weiss. This study demonstrates that FGFR2 mutations can result in a spectrum of craniofacial abnormalities even within one family. The known eponymic syndromes of Crouzon, Pfeiffer, or Jackson-Weiss only describe phenotypic extremes of this spectrum. Therefore, the clinical classification should be abandoned and replaced by a molecular one such as "FGFR-associated craniosynostosis syndromes."

Adolescent↗
PubMed1995

Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome.

Four cases of Crouzon syndrome, one familial and three sporadic, were investigated for mutations in exon B of the fibroblast growth factor receptor 2 (FGFR2) gene. In the familial case, a mutation was found at codon 340 that exchanged tyrosine for histidine. Mutations at codon 342, detected in the three sporadic cases, replaced a cysteine by another amino acid. While three of the mutations have been described before, the fourth mutation, a C-->G transversion at codon 342 in one of the sporadic cases, has not been recognized previously. Compilation of all exon B mutations in Crouzon syndrome described to date revealed that 6 of the 8 sporadic and 2 of the 9 familial cases have mutations in codon 342. These mutations caused the substitution of cysteine for another amino acid. Given that a mutation in codon 342 was found in 8 out of 17 cases and that in 9 cases the mutation occurred at five additional positions, codon 342 of exon B of the FGFR2 gene may be predisposed to mutations in Crouzon syndrome.

Base Sequence↗
PubMed1993

Prevalence of pigment dispersion syndrome in a population undergoing glaucoma screening.

The prevalence of pigment dispersion syndrome is thought to be relatively uncommon. Extrapolation of prevalences from glaucoma practices would suggest about 25,000 to 220,000 persons in the United States, an order of magnitude spread. By performing two population screenings that included slit-lamp examination, we detected pigment dispersion syndrome in 18 of 934 individuals. Sixteen of these were white, so that the prevalence of pigment dispersion syndrome in this group was 2.45%. We suggest that many more persons than previously believed may be at risk to develop pigment dispersion.

Adult↗
PubMed1992

Ophthalmology in Laos.

Laos, a small, landlocked nation of 4 million persons, has only recently begun modernization of its medical services, now a national priority. Five ophthalmologists and 11 cataract surgeons are responsible for the entire country. Tertiary care is available only at two centers; the first eye hospital opened in 1990. Several voluntary organizations have recently become involved in assisting with the development of services.

Blindness↗
PubMed1989

S (blue) cone pathway vulnerability in retinitis pigmentosa, diabetes and glaucoma.

A variety of retinal disease lead to a decrease in the sensitivity of the S (blue) cone pathways. To determine the possible sites and mechanisms of this loss we compared the sensitivities of an S (blue/pi-1) and an M (green/pi-4) cone pathway in patients with retinal diseases that differ as to their primary locus of sensitivity loss. The sensitivities of an S and an M cone pathway were assessed in patients with retinitis pigmentosa, insulin-dependent diabetes mellitus and open-angle glaucoma using Stiles two-color increment threshold technique. A greater loss in sensitivity of an S than an M cone pathway was found for all three disease groups; however, the diabetic patients showed a more selective loss. The results suggest that multiple sites are involved and that the combined effects of metabolic abnormalities and hypoxia contribute to the selective loss.

Adaptation, Ocular↗
PubMedDate not supplied

MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13.

A previously unrecognised X-chromosomal mental retardation syndrome is described. Clinical hallmarks are mental retardation, epileptic seizures, hypogonadism, and -genitalism, microcephaly and obesity. Life expectancy of patients is less than two years. Based on the major clinical symptoms this condition is referred to by the acronym MEHMO. Haplotype and two-point linkage analyses in a large three-generation family assign the disease locus to Xp21.1-p22.13, to a region that is flanked by CYBB and DXS365.

Epilepsy↗
PubMedDate not supplied

Integrated physical and transcript map of 5q31.3-qter.

We have constructed a physical and transcript map of 5q31.3-qter. The contig comprises 173 yeast artificial chromosomes (YACs) to which 159 sequence tagged sites (STSs), 47 expressed sequence tags (ESTs), and 32 genes were assigned. Previously published partial YAC contigs of the region have been refined and integrated. Given that the region contains 25 Mbp of DNA the average spacing of markers is approximately 100 kb.

Base Sequence↗