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[PMID]: | 29080836 |
[Au] Autor: | Chen J; Yang J; Zhao S; Ying H; Li G; Xu C |
[Ad] Endereço: | Department of Child Health, Xiamen Maternal and Child Health Hospital, Xiamen, Fujian, China; Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China. |
[Ti] Título: | Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia. |
[So] Source: | Gene;641:355-360, 2018 Jan 30. | [Is] ISSN: | 1879-0038 |
[Cp] País de publicação: | Netherlands |
[La] Idioma: | eng |
[Ab] Resumo: | BACKGROUND: Hypochondroplasia (HCH; OMIM 146000) is a common autosomal dominant skeletal dysplasia characterized by disproportionate short stature, short extremities, relative macrocephaly, and lumbar lordosis. Because of its clinical and genetic heterogeneity, gene mutational analysis is particularly important in diagnosis and the phenotypes may be ameliorated if diagnosed early. MATERIALS AND METHODS: In this study, we examined a Chinese family with HCH, performed an inductive analysis of their clinical features and radiographic results, and applied targeted exome sequencing (TES) technology to perform a molecular diagnosis. RESULTS: The proband and his mother all presented disproportionate short stature, short, stubby extremities, unchanged interpedicular distances from L1-L5, and short iliac bones, with a 'fish mouth-shaped' sciatic notch. The mother received induced abortion recently because an ultrasound showed short femur length of her fetus at 24-week gestation. Eventually, a novel heterozygous mutation (c.1145G>A) in FGFR3 was identified by TES in the proband, his mother, and her fetus; this causes the substitution of glycine with aspartic acid in codon 382. CONCLUSIONS: In this study, we diagnosed a Chinese pedigree with HCH based on clinical data, radiographic features, and genetic testing results. Our results extend the genetic mutation spectrum of FGFR3 and demonstrate that TES is an effective method for the diagnosis of skeletal dysplasia in clinical practices. |
[Mh] Termos MeSH primário: |
Grupo com Ancestrais do Continente Asiático/genética Osso e Ossos/anormalidades Nanismo/diagnóstico Nanismo/genética Deformidades Congênitas dos Membros/diagnóstico Deformidades Congênitas dos Membros/genética Lordose/diagnóstico Lordose/genética Mutação/genética Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética
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[Mh] Termos MeSH secundário: |
Adulto Ácido Aspártico/genética Criança Exoma/genética Glicina/genética Heterozigoto Seres Humanos Masculino Patologia Molecular/métodos Linhagem
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[Pt] Tipo de publicação: | JOURNAL ARTICLE |
[Nm] Nome de substância:
| 30KYC7MIAI (Aspartic Acid); EC 2.7.10.1 (FGFR3 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 3); TE7660XO1C (Glycine) |
[Em] Mês de entrada: | 1711 |
[Cu] Atualização por classe: | 171128 |
[Lr] Data última revisão:
| 171128 |
[Sb] Subgrupo de revista: | IM |
[Da] Data de entrada para processamento: | 171030 |
[St] Status: | MEDLINE |
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