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N Hatta

Publications and source records attributed to N Hatta.

42 records · Page 3Linked to original sources
PubMed1994

Analysis of NF1 gene mutations in neurofibromatosis type 1 patients in Japan.

Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. Here, we report two novel deletion mutations of the NF1 gene from two out of 25 unrelated Japanese NF1 patients. These mutations were detected using polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) analysis. Sequencing analysis revealed a 4 base pair (bp) deletion at 5679 (5679delACTG) in exon 30 in one patient and a single bp deletion at 5949 (5949delA) in exon 32 in the other patient. Both of these mutations resulted in frameshifts, followed by premature terminations of the mutant allele. Because only a few large rearrangements of the NF1 gene have been reported in NF1 patients, it is likely that subtle mutations such as these are common.

Amino Acid Sequence↗
PubMed1994

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese.

We report two familial cases of NF1 presenting as C to T transitions changing an Arg-1947 codon to a stop codon. In one of the two families, cosegregation of the mutation with NF1 was demonstrated, indicating this mutation causes the disease in this family. As the same mutation at Arg-1947 has been reported previously in three cases of unrelated Caucasians (two are sporadic; the origin of the other is not reported), the codon at Arg-1947 (CGA) in the NF1 gene is considered to be a hotspot common among different ethnic groups and also among familial and sporadic cases.

Adult↗
PubMed1994

Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome.

BACKGROUND: The pyloric atresia--junctional epidermolysis bullosa (PA-JEB) syndrome is an autosomal recessive disorder with a poor prognosis. Electron microscopy of fetal skin has been the only reliable method for prenatal diagnosis. OBJECTIVE: The purpose of this study was to make the prenatal diagnosis of PA-JEB syndrome with a more reliable method by means of immunocytochemical probes. METHODS: Expression of a range of basement membrane antigens was examined in different types of JEB. On the basis of the results, a fetal skin biopsy specimen was obtained for prenatal diagnosis. RESULTS: In PA-JEB syndrome (n = 2), GB3 antigen (BM600) was normally expressed; the 19-DEJ-1 antigen was completely absent. In fetal skin at risk for PA-JEB syndrome, the 19-DEJ-1 antigen was normally expressed, and no ultrastructural abnormality was found by electron microscopy. A normal male infant was delivered at 38 weeks of pregnancy. CONCLUSION: 19-DEJ-1 monoclonal antibody serves as a useful probe for the prenatal diagnosis of PA-JEB syndrome.

Adult↗
PubMedDate not supplied

Urticarial vasculitis in systemic lupus erythematosus: fair response to prednisolone/dapsone and persistent hypocomplementemia.

Two cases of urticarial vasculitis (UV) accompanying systemic lupus erythematosus (SLE) are reported. Both patients developed characteristic wheal and purpuric lesions of UV followed by pigmentation, and histological examination revealed leucocytoclastic vasculitis. Although oral prednisolone was beneficial for the systemic symptoms and various serological abnormalities, one patient needed dapsone and the other needed dapsone and cyclophosphamide to control the UV. In both patients, hypocomplementemia with no evidence of congenital complement deficiency or complement consumption persisted even after all other laboratory data and symptoms improved.

Anti-Inflammatory Agents↗