Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
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Beare-Stevenson 样综合征患者中出现新的 FGFR2 缺失。
DOI：
10.1002/ajmg.a.32947
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发表时间：
2009
期刊：
影响因子：
--
通讯作者：
Friez,Michael
中科院分区：
文献类型：
--
作者：
Slavotinek,Anne;Crawford,Howard;Golabi,Mahin;Tao,Cathy;Perry,Hazel;Oberoi,Sneha;Vargervik,Karin;Friez,Michael
Beare-Stevenson syndrome (BSS; OMIM 123790) is a rare craniosynostosis syndrome characterized by cutis gyrata, acanthosis nigricans, skin tags, anogenital anomalies and a prominent umbilicus. Two activating point mutations in FGFR2, p. Y375C and p. S372C, account for 50–60% of patients with BSS, and locus and/or allelic heterogeneity have been proposed. We present a novel deletion of 21 amino acids in the FGFR2 gene, c. 859del63, in a patient with BSS. BSS results from a gain of FGFR2 function, and this deletion may act by altering the splicing of isoform IIIc, resulting in illegitimate expression and thus a gain of function of FGFR2b.The propositus was delivered by cesarean for a dizygotic twin pregnancy at term to a 40-year-old, G3 P2-4 mother and a 48-year-old father. Birth parameters were weight 3,860 g (75–90th centile for a singleton male), length 51 cm (50–75th centile for a singleton male) and head circumference 36.5 cm (75–90th centile for a singleton male). Striking craniofacial features were present, including ocular proptosis with hypoplasia of the supraorbital ridges, hypertelorism with a divergent strabismus, deep creases below his eyes, a high nasal bridge, midface hypoplasia, complete atresia of the external ear canals with a left preauricular pit and bilateral ear creases. There were multiple neonatal teeth, gingival hyperplasia and a high-arched, narrow palate with a bifid uvula. Cutaneous features included cutis gyrata and acanthosis nigricans of the posterior scalp, small skin tags at the corners of the mouth, excess neck skin and a prominent umbilicus with redundant skin. A sacral tag, hypospadias and a prominent scrotal raphé were present. Examination of the hands and feet showed redundant palmar and plantar skin, slightly broad thumbs and halluces and mild skin syndactyly of the second and third toes with overlapping fourth toes. Investigations for a flat occiput and a prominent forehead at four months of age showed fusion of the posterior aspect of the sagittal and the proximal lambdoid sutures and cranial vault remodeling was performed at seven months. Bilateral choanal stenosis and a mild to moderate mixed hearing loss requiring hearing aids were present. Ophthalmological examination detected mild optic
