Addor M C, Gudinchet F, Laurini R N, Pescia G, Schorderet D F
Division of Medical Genetics, CHUV, Lausanne, Switzerland.
Genet Couns. 1997;8(4):303-9.
We report on a sporadic case of Pfeiffer syndrome in a male newborn with complex craniosynostosis, broad thumbs and great toes and early demise. SSCP and direct sequencing revealed a missense mutation at position 1037 of the exon B (or IIIc) of the FGFR2 gene (codon 342) resulting in a cysteine to serine modification (TGC-TCC). Genotype-phenotype correlations between the FGFRs mutations and the different craniosynostotic syndromes are discussed.
我们报告了一例散发的男性新生儿 Pfeiffer 综合征病例，该患儿患有复杂的颅缝早闭、宽拇指和大脚趾，并早夭。单链构象多态性分析（SSCP）和直接测序显示，FGFR2 基因外显子 B（或 IIIc）第 1037 位（密码子 342）发生错义突变，导致半胱氨酸变为丝氨酸（TGC-TCC）。本文讨论了 FGFRs 突变与不同颅缝早闭综合征之间的基因型-表型相关性。
