A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
Journal of Genetic Medicine
; : 97-101, 2018.
Article
em En
| WPRIM
| ID: wpr-719106
Biblioteca responsável:
WPRO
ABSTRACT
Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Fenótipo
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Testamentos
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Ossos do Metatarso
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Nariz
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Éxons
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Mutação da Fase de Leitura
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Bases de Dados Genéticas
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Diagnóstico
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Epífises
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Ossos Metacarpais
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Male
Idioma:
En
Revista:
Journal of Genetic Medicine
Ano de publicação:
2018
Tipo de documento:
Article