Fontaine K, Sémonin O, Legarde J P, Lenoir G, Lucotte G
European Sequence Gene, Cybergène, Evry, France.
Genet Couns. 2005;16(2):149-54.
A new mutation of the Noggin gene in a French Fybrodysplasia ossificans progressiva (FOP) family: Fibrodysplasia ossificans progressiva (FOP) is a very rare disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of the muscles. We previously located a FOP gene in the 17q21-22 region and described several mutations of the noggin (NOG) gene (located in 17q22) in four FOP patients, including the G91C mutation which is transmitted dominantly in a Spanish FOP family. We describe in the present study a new mutation of the NOG gene in a French FOP family. This new mutation is a guanine to adenine change at nucleotide 283 (283G --> A) of the NOG gene, and is transmitted in the family (in the heterozygote form) by the affected mother to her two affected children. At the peptide level this mutation (A95T) substitutes an Alanine residue by a Threonine at position 95 of the Noggin protein. The Alanine mutated residue is located just adjacent to the myristoylation site of the protein, where all the mutations we described until now are located.
法国进行性骨化性肌炎（FOP）家族中Noggin基因的新突变：进行性骨化性肌炎（FOP）是一种非常罕见的疾病，其特征是大脚趾先天性畸形以及肌肉进行性异位骨化。我们之前在17q21 - 22区域定位到了一个FOP基因，并在4名FOP患者中描述了noggin（NOG）基因（位于17q22）的几种突变，包括在一个西班牙FOP家族中呈显性遗传的G91C突变。我们在本研究中描述了一个法国FOP家族中NOG基因的新突变。这个新突变是NOG基因第283位核苷酸处由鸟嘌呤变为腺嘌呤（283G→A），并由患病母亲以杂合子形式遗传给她的两个患病子女。在肽水平上，这个突变（A95T）在Noggin蛋白的第95位将一个丙氨酸残基替换为苏氨酸。突变的丙氨酸残基恰好位于该蛋白的肉豆蔻酰化位点附近，我们迄今描述的所有突变都位于此处。
