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Andrea Superti-Furga

Publications and source records attributed to Andrea Superti-Furga.

41 records · Page 3Linked to original sources
PubMed2002

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.

Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition characterized by multiple subcutaneous nodular tumors, gingival fibromatosis, flexion contractures of the joints, and an accumulation of hyaline in the dermis. We performed a genomewide linkage search in two families with JHF from the same region of the Indian state of Gujarat and identified a region of homozygosity on chromosome 4q21. Dense microsatellite analyses within this interval in five families with JHF who were from diverse origins demonstrate that all are compatible with linkage to chromosome 4q21 (multipoint LOD score 5.5). Meiotic recombinants place the gene for JHF within a 7-cM interval bounded by D4S2393 and D4S395.

Child↗
PubMed2002

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.

The autosomal recessive lysosomal storage disorder, nephropathic cystinosis is characterized by impaired transport of free cystine out of lysosomes. The gene responsible for cystinosis, CTNS, consists of 12 exons and encodes a 55 kDa putative lysosomal membrane protein, called cystinosin. Up to now more than 55 different CTNS mutations have been described in cystinosis. We have analyzed the mutation pattern in a population of 40 cystinosis patients from 35 families of German and Swiss origin. CTNS mutations in 68 out of 70 alleles were identified. The common 57-kb deletion accounted for 65% of the alleles. In five patients we found a known GACT deletion at position 18-21. In two patients we identified a nucleotide substitution at codon 339 and one patient showed a CG insertion at position 697-698. In five patients we observed a G insertion at position 926-927. Moreover, five novel mutations including two deletions involving exon 3 (61-61+2delGGT) and exon 6 (280delG), two insertions in exon 6 (292-293insA) and exon 7 (684insCACTT) and one nucleotide substitution in exon 11 (923G>T) have been identified. These data provide a basis for routine molecular diagnosis of cystinosis in the central European population, especially in cystinosis patients of German and Swiss origin.

Amino Acid Sequence↗
PubMed2002

Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal.

OBJECTIVES: To assess quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria (PKU). STUDY DESIGN: Cross-sectional study. METHODS: Assessment of 37 patients with PKU between 3 and 18 years of age (mean, 10.9 years), with parents used as informants. The TNO-AZL Questionnaire for Children's Health-Related Quality of Life and Child Behavior Checklist scores were compared with healthy reference groups. Predictive values of sociodemographic and clinical variables for quality of life and psychologic adjustment were assessed. RESULTS: Most dimensions of quality of life in children with PKU were not different from reference values. The only deviation in the PKU group was a reduction of positive emotions. Psychologic adjustment in patients with PKU was better than in a healthy reference group. Whereas sociodemographic variables and phenylalanine levels in the 12 months preceding the study were not associated to quality of life and psychologic adjustment, a long-term negative effect of higher phenylalanine levels during the first year of life on some dimensions of quality of life and psychologic adjustment could be identified. CONCLUSIONS: Although the results may not necessarily apply to patients with PKU in other geographic or socioeconomic contexts, they demonstrate that normal health-related quality of life and good psychologic adjustment is an achievable goal in children with PKU.

Adaptation, Psychological↗
PubMedDate not supplied

Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.

Bone biopsies were performed before and 7 weeks after transplantation of HLA-compatible bone marrow from the sister of a 3-month-old male infant with malignant autosomal recessive osteopetrosis due to a mutation in the TCIRG1 (ATP6i) gene. The first biopsy showed broad, immature bony trabeculae and no medullary hematopoiesis. Only few osteoclasts were present and electron microscopy showed absence of ruffled borders. The post transplant biopsy revealed donor osteoclasts with ruffled borders and intracytoplasmic mineral crystals as proof of active bone resorption that had not yet been detectable radiographically. Osteopetrosis is a genetically heterogeneous disease. Definition at the DNA-level will enable comparison of treatment strategies and prenatal diagnosis. As shown in this patient, the autosomal recessive form caused by a TCIRG1 gene mutation may be amenable to bone marrow transplantation. Activity of donor osteoclasts can be demonstrated morphologically on biopsy, before bone remodeling becomes evident radiologically.

Bone Marrow↗