scholarly journals Phenotype-Genotype Correlation in Eight Chinese 17α-Hydroxylase/17,20 Lyase-Deficiency Patients with Five Novel Mutations of CYP17A1 Gene

2006 ◽  
Vol 91 (9) ◽  
pp. 3619-3625 ◽  
Author(s):  
Jun Yang ◽  
Bin Cui ◽  
Shouyue Sun ◽  
Tieliu Shi ◽  
Siyuan Zheng ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Lyase Deficiency ◽  
Genotype Correlation

scholarly journals Sengers syndrome in Asian Indians – two novel mutations and variant phenotype-genotype correlation

2017 ◽  
Vol 2 (3-4) ◽  
pp. 157-164 ◽  
Author(s):  
Sangeeta Khatter ◽  
Ratna Dua Puri ◽  
Sunita Bijarnia-Mahay ◽  
Mridul Aggarwal ◽  
V.L. Ramprasad ◽  
...  
Keyword(s):  
Asian Indians ◽  
Novel Mutations ◽  
Variant Phenotype ◽  
Sengers Syndrome ◽  
Genotype Correlation

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

1999 ◽  
Vol 13 (3) ◽  
pp. 197-202 ◽  
Author(s):  
Sandrine Marie ◽  
Harry Cuppens ◽  
Michel Heuterspreute ◽  
Martine Jaspers ◽  
Eduardo Zambrano Tola ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Novel Mutations ◽  
Coding Sequence ◽  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency

Phenotype ? genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations

Haemophilia ◽  
2007 ◽  
Vol 13 (5) ◽  
pp. 649-657 ◽  
Author(s):  
V. IVASKEVICIUS ◽  
J. WINDYGA ◽  
B. BARAN ◽  
V. SCHROEDER ◽  
J. JUNEN ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Novel Mutations ◽  
Factor Xiii Deficiency ◽  
Genotype Correlation

Expanding the clinical and genetic spectrum of 17α-Hydroxylase/17,20-Lyase deficiency: 7 cases and 5 novel mutations in the CYP17A1 gene

2020 ◽  
Author(s):  
Min Sun ◽  
Jonathan Müller ◽  
Lorna Gilligan ◽  
Angela Taylor ◽  
Fozia Shaheen ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Lyase Deficiency

Molecular Basis of Congenital Dyserythropoietic Anemia Type I in French Patients.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3709-3709 ◽  
Author(s):  
Hannah Tamary ◽  
Orly Dgany ◽  
Alexis Proust ◽  
Tanya Krasnov ◽  
Nili Avidan ◽  
...  
Keyword(s):  
Severe Disease ◽  
Macrocytic Anemia ◽  
Monozygotic Twin ◽  
Type I ◽  
Missense Mutations ◽  
Novel Mutations ◽  
Gene Encoding ◽  
Congenital Dyserythropoietic Anemia ◽  
Number Of Patients ◽  
Genotype Correlation

Abstract Congenital dyserythropoietic anemia type I (CDA I) is an inherited disorder characterized by macrocytic anemia and occasionally also by distal bone malformations. The disease has recently been shown to be caused by mutations in the CDAN1 gene, encoding codanin-1. The aim of the study was to characterize the CDAN1 mutations in 12 French patients with CDA I. The clinical data of the 12 French patients (10 kindreds) with CDA I were reviewed. Each of the 28 CDAN1 exons was amplified and sequenced. Half of the patients had a severe disease with prominent neonatal manifestations, complex bone disease, or both. Nine disease-causing mutations were identified: 6 described previously (P1130L, P671L, F869I, R681X, R713W, S1034F) and 3 novel mutations (R687W, F52L and IVS 8 G to A). Seven were missense mutations located in exons 14 to 28. Twenty seven per cent were identified in exon 14. No patient was homozygous for null type mutations. Only in two monozygotic twin patients did we fail to uncover a mutation. Mutations P671L, F52L and R713W were found on four, two and two alleles, respectively. One of the P671L alleles carried a second mutation (R687W). In conclusion the CDAN1 gene is apparently involved in most cases of CDA I in the French patients explored. Our study supports the previous findings that homozygosity for the null type mutations may be lethal, and that CDAN1 mutations are localized mainly in exons 12–28. In the present small group of patients, no apparent phenotype-genotype correlations were observed, in particular concerning abnormalities of the bones. Analysis of a larger number of patients from different ethnic groups is required to further characterize phenotype-genotype correlation in CDA I.

Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype–genotype correlation

2016 ◽  
Vol 26 (9) ◽  
pp. 604-609 ◽  
Author(s):  
Kazuko Takayama ◽  
Satomi Mitsuhashi ◽  
Je-Young Shin ◽  
Rieko Tanaka ◽  
Tatsuya Fujii ◽  
...  
Keyword(s):  
Growth Factor ◽  
Epidermal Growth Factor ◽  
Novel Mutations ◽  
Epidermal Growth ◽  
Genotype Correlation
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