Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 May 17:9:181.
doi: 10.3389/fgene.2018.00181. eCollection 2018.

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

Yahong Li  1 , Dingyuan Ma  1 , Yun Sun  1 , Lulu Meng  1 , Yanyun Wang  1 , Tao Jiang  1
Affiliations

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

Yahong Li et al. Front Genet. .

Abstract

Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene. Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation in our hospital with the symptom of craniosynostosis and syndactyly of the hands and feet. Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously, apart from these, ears were mildly low compared with normal children and there was no cleft lip and palate. Mutation was identified by sanger sequencing and a mutation in the exon 7 of FGFR2 gene was detected: p.Pro253Arg (P253R) 758 C > G, which was not found in his parents. Conclusion: The baby had Apert syndrome caused by 758 C > G mutation in the exon 7 of FGFR2 gene, considering no this mutation in his parents, it was spontaneous.

Keywords: Apert syndrome; FGFR2; craniosynostosis; exons sequencing; genetic mutation.

PubMed Disclaimer

Figures

FIGURE 1
FIGURE 1
Syndactylies and contraction of the hands and feet. (A) Both sides of the hands; (B) Severe syndactyly of toes.
FIGURE 2
FIGURE 2
Head features of the Apert syndrome patient. (A) Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously; (B) Ears were mildly low compared with normal children.
FIGURE 3
FIGURE 3
Mutation analysis of the Apert syndrome patient and his parents. (A) A mutation in the sequence of exon 7 was detected: p.Pro253Arg (P253R) 758 C > G; (B) The sequence of exon 7 of his mother and no mutation was detected; (C) The sequence of exon 7 of his father, as well there was no mutation was detected.
See this image and copyright information in PMC

References

    1. Azoury S. C., Reddy S., Shukla V., Deng C. X. (2017). Fibroblast growth factor receptor 2 (FGFR2) mutation related syndromic craniosynostosis. 13 1479–1488. 10.7150/ijbs.22373 - DOI - PMC - PubMed
    1. Chang C. C., Tsai F. J., Tsai H. D., Tsai C. H., Hseih Y. Y., Lee C. C., et al. (1998). Prenatal diagnosis of Apert syndrome. 18 621–625. - PubMed
    1. Cohen M. J., Kreiborg S. (1993). Visceral anomalies in the Apert syndrome. 45 758–760. 10.1002/ajmg.1320450618 - DOI - PubMed
    1. Cohen M. J., Kreiborg S., Lammer E. J., Cordero J. F., Mastroiacovo P., Erickson J. D., et al. (1992). Birth prevalence study of the Apert syndrome. 42 655–659. 10.1002/ajmg.1320420505 - DOI - PubMed
    1. Coomaralingam S., Roth P. (2012). Apert syndrome in a newborn infant without craniosynostosis. 23 e209–e211. 10.1097/SCS.0b013e31824de344 - DOI - PubMed

LinkOut - more resources