Heterozygous kinase domain mutations or homozygous extracellular domain mutations in FGFR1 have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in FGFR1 have been described; however, only 10 HS-associated mutations have been reported thus far. We describe a case of typical HS with hypogonadotropic hypogonadism (HH) harboring a novel heterozygous mutation, p.His253Pro, in the extracellular domain of FGFR1. This is the first report of an HS-associated heterozygous mutation located in the extracellular domain of FGFR1, thus expanding our understanding of the phenotypic features and further developmental course associated with FGFR1 mutations.

中文翻译：

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与Hartsfield综合征相关的FGFR1胞外域中的新型杂合突变。

据报道，FGFR1中的杂合激酶结构域突变或纯合胞外结构域突变可导致Hartsfield综合征（HS），其特征是全前脑，外和唇/裂三联征。迄今为止，已描述了FGFR1的200多个突变。然而，到目前为止，仅报道了10个与HS相关的突变。我们描述了一个典型的HS，具有促性腺激素减退性腺功能减退症（HH），在FGFR1的胞外域中携带一种新型的杂合突变，p.His253Pro。这是位于FGFR1胞外域的HS相关杂合突变的首次报道，从而扩大了我们对与FGFR1突变相关的表型特征和进一步发展进程的理解。