共 40 条
Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations
被引:30
作者:

Rigoli, Luciana
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机构:
Univ Messina, Dept Human Pathol, Messina, Italy Univ Messina, Dept Human Pathol, Messina, Italy

Aloi, Concetta
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机构:
Ist Giannina Gaslini, LABSIEM Lab Study Inborn Errors Metab, Genoa, Italy Univ Messina, Dept Human Pathol, Messina, Italy

Salina, Alessandro
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机构:
Ist Giannina Gaslini, LABSIEM Lab Study Inborn Errors Metab, Genoa, Italy Univ Messina, Dept Human Pathol, Messina, Italy

Di Bella, Chiara
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机构:
Univ Messina, Dept Human Pathol, Messina, Italy Univ Messina, Dept Human Pathol, Messina, Italy

Salzano, Giuseppina
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机构:
Univ Messina, Dept Human Pathol, Messina, Italy Univ Messina, Dept Human Pathol, Messina, Italy

Caruso, Rosario
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机构:
Univ Messina, Dept Human Pathol, Messina, Italy Univ Messina, Dept Human Pathol, Messina, Italy

Mazzon, Emanuela
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机构:
IRCCS Ctr Neurolesi Bonino Pulejo, Messina, Italy Univ Messina, Dept Human Pathol, Messina, Italy

Maghnie, Mohamad
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h-index: 0
机构:
Univ Genoa, Dept Pediat, Ist Giannina Gaslini, Genoa, Italy Univ Messina, Dept Human Pathol, Messina, Italy

Patti, Giuseppa
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机构:
Univ Genoa, Dept Pediat, Ist Giannina Gaslini, Genoa, Italy Univ Messina, Dept Human Pathol, Messina, Italy

D'Annunzio, Giuseppe
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机构:
Ist Giannina Gaslini, Dept Pediat, Genoa, Italy Univ Messina, Dept Human Pathol, Messina, Italy

Lombardo, Fortunato
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机构:
Univ Messina, Dept Human Pathol, Messina, Italy Univ Messina, Dept Human Pathol, Messina, Italy
机构:
[1] Univ Messina, Dept Human Pathol, Messina, Italy
[2] Ist Giannina Gaslini, LABSIEM Lab Study Inborn Errors Metab, Genoa, Italy
[3] IRCCS Ctr Neurolesi Bonino Pulejo, Messina, Italy
[4] Univ Genoa, Dept Pediat, Ist Giannina Gaslini, Genoa, Italy
[5] Ist Giannina Gaslini, Dept Pediat, Genoa, Italy
关键词:
DIABETES-MELLITUS;
OPTIC ATROPHY;
WFS1;
GENE;
HOMOZYGOUS MUTATION;
DEAFNESS DIDMOAD;
PROTEIN;
EXPRESSION;
IDENTIFICATION;
COMPLICATIONS;
INSIPIDUS;
D O I:
10.1038/s41390-019-0487-4
中图分类号:
R72 [儿科学];
学科分类号:
100202 ;
摘要:
Objectives We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype-phenotype correlations. Methods Clinical criteria contributing to WS1 diagnosis were analyzed. The patients were classified into three genotypic classes according to type of detected mutations. Results WS1 prevalence in Italy is 0.74/1,000,000. All four manifestations of DIDMOAD were found in 46.7% of patients. Differently combined WS1 clinical features were detected in 53.3% of patients. We found 35 WFS1 different mutations and a novel missense mutation, c.1523A>G. WS1 patients were homozygotes or compound heterozygotes for WFS1 mutations except for 2 heterozygote patients (4.5%). Each genotypic group exhibited a different age onset of DM, D, and DI but not of OA. Genotypic Group 2 patients manifested a lower number of clinical manifestations compared to Groups 1 and 3. Moreover, genotypic Group 1 patients tended to have a shorter survival time than the other groups. No differences were found regarding type of clinical pictures. Conclusions Our study suggested that molecular WFS1 typing is a useful tool for early assessment of clinical history, follow-up, and prognosis of WS1.
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页码:456 / 462
页数:7
相关论文
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AMERICAN JOURNAL OF HUMAN GENETICS,
2000, 66 (04)
:1229-1236

El-Shanti, H
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机构: Ohio State Univ, Coll Dent, Sect Orthodont, Columbus, OH 43210 USA

Lidral, AC
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机构: Ohio State Univ, Coll Dent, Sect Orthodont, Columbus, OH 43210 USA

Jarrah, N
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机构: Ohio State Univ, Coll Dent, Sect Orthodont, Columbus, OH 43210 USA

Druhan, L
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机构: Ohio State Univ, Coll Dent, Sect Orthodont, Columbus, OH 43210 USA

Ajlouni, K
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h-index: 0
机构: Ohio State Univ, Coll Dent, Sect Orthodont, Columbus, OH 43210 USA