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FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.

Yuan H, Huang L, Hu X, Li Q, Sun X, Xie Y, Kong S, Wang X - Orphanet J Rare Dis (2016)

Bottom Line: Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations.Using quantitative real-time PCR analysis, GRB10 was over-expressed, and, using enzyme-linked immunosorbent assays for IGF1 and IGF-binding protein-3 (IGFBP3), we found that IGF1 and IGFBP3 were low-expressed in this patient.We demonstrate that a combination of uncommon, rare and exceptional molecular defects related to the molecular bases of particular birth defects can be analyzed and diagnosed to potentially explain the observed variability in the combination of molecular defects.

View Article: PubMed Central - PubMed

Affiliation: Guangzhou KingMed Center for Clinical Laboratory Co., Ltd, Guangzhou, 510330, Guangdong, China.

ABSTRACT

Background: Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations.

Result: A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene. Using quantitative real-time PCR analysis, GRB10 was over-expressed, and, using enzyme-linked immunosorbent assays for IGF1 and IGF-binding protein-3 (IGFBP3), we found that IGF1 and IGFBP3 were low-expressed in this patient.

Conclusions: We demonstrate that a combination of uncommon, rare and exceptional molecular defects related to the molecular bases of particular birth defects can be analyzed and diagnosed to potentially explain the observed variability in the combination of molecular defects.

No MeSH data available.


Related in: MedlinePlus

Clinical features of the proband at 2 years of age. a Note the prominent forehead, triangular face, downward-slanting mouth and micrognathia. The proband also presented with very short limbs and body asymmetry, b a low nasal bridge, and c trident hands and fifth finger clinodactyly, d scoliosis
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Fig1: Clinical features of the proband at 2 years of age. a Note the prominent forehead, triangular face, downward-slanting mouth and micrognathia. The proband also presented with very short limbs and body asymmetry, b a low nasal bridge, and c trident hands and fifth finger clinodactyly, d scoliosis

Mentions: A 2-year-old Chinese boy was referred and admitted to our hospital because of congenital malformations and development delay over the previous month. He presented with a characteristically small triangular face with a prominent forehead and low nasal bridge, micrognathia and downturned corners of the mouth, and sparse hair (Fig. 1). He could not walk but could sit with support, and his language development was significantly delayed. He had been previously diagnosed with global developmental delay (date not provided), and he exhibited short limbs and relative macrocephaly without compensatory growth at 6 months of age.Fig. 1


FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.

Yuan H, Huang L, Hu X, Li Q, Sun X, Xie Y, Kong S, Wang X - Orphanet J Rare Dis (2016)

Clinical features of the proband at 2 years of age. a Note the prominent forehead, triangular face, downward-slanting mouth and micrognathia. The proband also presented with very short limbs and body asymmetry, b a low nasal bridge, and c trident hands and fifth finger clinodactyly, d scoliosis
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4930580&req=5

Fig1: Clinical features of the proband at 2 years of age. a Note the prominent forehead, triangular face, downward-slanting mouth and micrognathia. The proband also presented with very short limbs and body asymmetry, b a low nasal bridge, and c trident hands and fifth finger clinodactyly, d scoliosis
Mentions: A 2-year-old Chinese boy was referred and admitted to our hospital because of congenital malformations and development delay over the previous month. He presented with a characteristically small triangular face with a prominent forehead and low nasal bridge, micrognathia and downturned corners of the mouth, and sparse hair (Fig. 1). He could not walk but could sit with support, and his language development was significantly delayed. He had been previously diagnosed with global developmental delay (date not provided), and he exhibited short limbs and relative macrocephaly without compensatory growth at 6 months of age.Fig. 1

Bottom Line: Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations.Using quantitative real-time PCR analysis, GRB10 was over-expressed, and, using enzyme-linked immunosorbent assays for IGF1 and IGF-binding protein-3 (IGFBP3), we found that IGF1 and IGFBP3 were low-expressed in this patient.We demonstrate that a combination of uncommon, rare and exceptional molecular defects related to the molecular bases of particular birth defects can be analyzed and diagnosed to potentially explain the observed variability in the combination of molecular defects.

View Article: PubMed Central - PubMed

Affiliation: Guangzhou KingMed Center for Clinical Laboratory Co., Ltd, Guangzhou, 510330, Guangdong, China.

ABSTRACT

Background: Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations.

Result: A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene. Using quantitative real-time PCR analysis, GRB10 was over-expressed, and, using enzyme-linked immunosorbent assays for IGF1 and IGF-binding protein-3 (IGFBP3), we found that IGF1 and IGFBP3 were low-expressed in this patient.

Conclusions: We demonstrate that a combination of uncommon, rare and exceptional molecular defects related to the molecular bases of particular birth defects can be analyzed and diagnosed to potentially explain the observed variability in the combination of molecular defects.

No MeSH data available.


Related in: MedlinePlus