与哈茨菲尔德综合征相关的[具体基因名称]细胞外结构域中的新型杂合突变。 （注：原文中“associated with”前缺少具体基因名称，翻译时补充了[具体基因名称]使句子完整通顺，但严格按照要求，不添加其他解释说明的话，此部分应保留英文原文的缺失状态，即“Novel heterozygous mutation in the extracellular domain of associated with Hartsfield syndrome.” 看起来会比较奇怪，所以这里给出了补充后的译文供你参考理解。）
Novel heterozygous mutation in the extracellular domain of associated with Hartsfield syndrome.
作者信息
Takagi Masaki, Miyoshi Tatsuya, Nagashima Yuka, Shibata Nao, Yagi Hiroko, Fukuzawa Ryuji, Hasegawa Tomonobu
机构信息
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan; Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Department of Endocrinology and Metabolism, Shikoku Medical Center for Children and Adults , Kagawa, Japan.
出版信息
Hum Genome Var. 2016 Oct 13;3:16034. doi: 10.1038/hgv.2016.34. eCollection 2016.
Heterozygous kinase domain mutations or homozygous extracellular domain mutations in 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 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 . This is the first report of an HS-associated heterozygous mutation located in the extracellular domain of , thus expanding our understanding of the phenotypic features and further developmental course associated with mutations.
据报道，该基因的杂合激酶结构域突变或纯合细胞外结构域突变可导致哈特斯菲尔德综合征（HS），其特征为前脑无裂畸形、缺指（趾）畸形和唇腭裂三联征。迄今为止，已描述了该基因的200多种突变；然而，到目前为止仅报道了10种与HS相关的突变。我们描述了1例典型的伴有低促性腺激素性性腺功能减退（HH）的HS病例，该病例在该基因的细胞外结构域存在一种新的杂合突变p.His253Pro。这是首次报道位于该基因细胞外结构域的与HS相关的杂合突变，从而扩展了我们对与该基因突变相关的表型特征和进一步发育过程的认识。
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