Analysis of SLC39A4 gene mutation in a patient with acrodermatitis enteropathica / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 387-389, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-335120
ABSTRACT
<p><b>OBJECTIVE</b>To detect pathogenic mutation of the SLC39A4 gene in a male patient with acrodermatitis enteropathica (AE).</p><p><b>METHODS</b>Peripheral venous blood sample and clinical data from the patient and his parents were collected. One hundred unrelated healthy individuals were recruited as controls. All coding exons and flanking exon-intron sequences of the SLC39A4 gene were analyzed by PCR and direct sequencing.</p><p><b>RESULTS</b>The results revealed that the patient and his mother have both carried a novel frame-shift mutation c.1110InsG (p.Gly370GlyfsX47 to TGA) in exon 6. A novel nonsense mutation c.958C to T (p.Q320X) in exon 5 was also detected in the patient and his father and grandmother. This novel mutation was not detected in the unaffected family members and 100 unrelated healthy controls.</p><p><b>CONCLUSION</b>The novel frame-shift mutation c.1110InsG (p.Gly370GlyfsX47 to TGA) derived from the mother and nonsense mutation c.958C to T (p.Q320X) of the SLC39A4 gene derived from the father may underlie the disease in the patient.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Zinco
/
Acrodermatite
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Éxons
/
Proteínas de Transporte de Cátions
/
Genética
/
Homozigoto
/
Mutação
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo
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