Genotype-phenotype analysis in Apert syndrome
10.3969/j.issn.1000-3606.2016.08.014
- VernacularTitle:Apert综合征1例临床特征与基因类型分析
- Author:
Mei LU
;
Meijiao FU
;
Hui XIE
- Publication Type:Journal Article
- Keywords:
Apert syndrome;
FGFR2 gene;
mutation
- From:
Journal of Clinical Pediatrics
2016;34(8):618-622
- CountryChina
- Language:Chinese
-
Abstract:
Objectives To analyze the clinical features and gene types of Apert syndrome (AS). Methods The clinical data of one boy with AS were retrospectively revisited and FGFR 2 of the boy and his father were analyzed with PCR amplification and gene sequencing. The relevant literatures were reviewed. Results The boy was one year and one month old, with brachycephaly, exophthalmos, hypertelorism, low set ears, micrognathia, high-vaulted arch, without cleft palate, and with syndactyly of both ifngersⅠ-Ⅴ and toesⅠ-Ⅴ. A heterozygous mutation (c. 758 C?>?G,p.P 253 R) in exon 7 of FGFR 2 was detected in the boy, supporting the diagnosis of AS. The relevant gene mutation was not detected in his father. Among the 24 cases of AS retrieved from literature, 22 cases were with obvious craniofacial malformations, one with mild craniofacial malformations and one without craniofacial malformations. All cases were with syndactyly of both ifngers and toes. Thirteen cases of FGFR 2 were with S 252 W mutation, 3 cases with P 253 R , 3 cases with Alu insertion, one with 1 . 93-kb deletion, removing exon IIIc and substantial portions of the lfanking introns, one case with a heterozygous 1372 bp deletion between FGFR 2 exons IIIb and IIIc, 2 cases with (c.756_758delGCCinsCTT) in the IgIIe-IgIIIa linker region and one case with sequence variant T78.501A in intron 8. Conclusions Apert syndrome present with craniofacial malformations and syndactyly of hands and feet, S 252 W and P 253 R are main mutations of AS.
