Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing

2012 ◽  
Vol 136 (1) ◽  
pp. 15-20 ◽  
Author(s):  
M. Vlckova ◽  
M. Trkova ◽  
Z. Zemanova ◽  
M. Hancarova ◽  
D. Novotna ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Array Cgh ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH

2007 ◽  
Vol 71 (3) ◽  
pp. 260-266 ◽  
Author(s):  
OD Klein ◽  
PD Cotter ◽  
MW Moore ◽  
A Zanko ◽  
M Gilats ◽  
...  
Keyword(s):  
Array Cgh ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency

Anemia ◽  
2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Boonchai Boonyawat ◽  
Tim Phetthong ◽  
Nithipun Suksumek ◽  
Chanchai Traivaree
Keyword(s):  
Dna Sequencing ◽  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Neonatal Hyperbilirubinemia ◽  
Molecular Heterogeneity ◽  
Phenotype Correlation ◽  
Direct Dna Sequencing ◽  
Female Patients ◽  
Genotype Phenotype Correlation ◽  
G6pd Gene

Background. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common X-linked inherited erythroenzymopathy in Thailand. The clinical and hematological manifestations of G6PD deficiency are variable. Objective. This study aimed to characterize the genotype-phenotype correlation of G6PD mutations in Thai pediatric patients who were followed-up in Phramongkutklao Hospital, a tertiary center in central Thailand. Material and Method. A total of 102 children including 73 males (71.6%) and 29 females (28.4%) were included in our study. Mutation analysis was performed by direct DNA sequencing of all coding exons of the G6PD gene. Ninety-one patients (89.2%) were presented with neonatal hyperbilirubinemia and 11 patients (10.8%) were presented with acute hemolytic anemia beyond the neonatal period. Results. Molecular analysis of the G6PD gene in 102 G6PD-deficient Thai children identified 12 different mutations. G6PD Viangchan (871G > A) and G6PD Canton (1376G > T) were the first (46.2%) and the second (15.4%) most common identified mutations among both male and female G6PD-deficient individuals, respectively. All affected males were hemizygous for G6PD mutations and had an average G6PD level of 16.7 ± 11.5 (3–76) IU/ml.RBC. Majority of female patients (27 in 29, 93.1%) were heterozygous for G6PD mutations and had an average G6PD level of 133.6 ± 43.4 (9–195) IU/ml.RBC. Two female patients (6.9%) were either homozygous or compound heterozygous for the mutations and had G6PD level in the affected male range (35 and 10 IU/ml.RBC). Only 1 in 27 heterozygous females (3.7%) had G6PD level in the affected male range (9 IU/ml.RBC) which is possibly explained by nonrandom X-chromosome inactivation. The correlation of genotypes, G6PD levels, and clinical phenotypes was not demonstrated in our study in which all of the included G6PD-deficient patients were presented with neonatal hyperbilirubinemia and acute hemolytic anemia, since the genotype-phenotype correlation is normally demonstrated in chronic nonspherocytic hemolytic anemia (CNSHA) G6PD-deficient individuals. Conclusion. This study characterizes the molecular heterogeneity of G6PD variants causing G6PD deficiency in Thai children. Our study demonstrated the efficiency of direct DNA sequencing which can identify 12 missense mutations in Thai children.

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment

2015 ◽  
Vol 146 (1) ◽  
pp. 39-43 ◽  
Author(s):  
Elisa Tassano ◽  
Alessandra Gamucci ◽  
Maria E. Celle ◽  
Patrizia Ronchetto ◽  
Cristina Cuoco ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Language Impairment ◽  
Array Cgh ◽  
De Novo ◽  
Phenotype Correlation ◽  
Molecular Cytogenetic ◽  
Genotype Phenotype Correlation ◽  
Cytogenetic Characterization ◽  
Inducible Gene

Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.3 deletions characterized by variable phenotypes have been reported. No clear genotype-phenotype correlation has been determined yet. We present a child with a de novo interstitial 1p31.1p31.3 deletion, identified by array CGH, associated with intellectual disability and severe language impairment. The deleted region contains 20 OMIM genes, but we focused on GADD45A (MIM 126335; growth arrest- and DNA damage-inducible gene), LRRC7 (MIM 614453; leucine-rich repeat-containing protein 7), and NEGR1 (MIM 613173; neuronal growth regulator 1). We discuss whether these genes play a role in determining the phenotype of our patient in order to investigate the possibility of a genotype-phenotype correlation.

P2: Finetuning of the genotype-phenotype correlation in Cri du Chat syndrome using array CGH

2005 ◽  
Vol 48 (4) ◽  
pp. 448-449
Author(s):  
Adri Mul ◽  
Hai-Yen Man ◽  
Inge B. Mathijssen ◽  
Eline A. Nannenberg ◽  
Hussein Sheikh Ali Mohamoud ◽  
...  
Keyword(s):  
Array Cgh ◽  
Phenotype Correlation ◽  
Cri Du Chat Syndrome ◽  
Genotype Phenotype Correlation

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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