线粒体 RNA 加工内切核酸酶基因突变导致 2 名同胞患软骨毛发发育不全综合征。
Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.
机构信息
Neonatology Unit, Mother-Child Department, University Hospital of Modena, Italy.
Post-graduated School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, Italy.
出版信息
Eur J Med Genet. 2021 Feb;64(2):104136. doi: 10.1016/j.ejmg.2021.104136. Epub 2021 Jan 12.
Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage hair hypoplasia syndrome has a broad phenotype and it is caused by homozygous or compound heterozygous mutation in the mitochondrial RNA-processing endoribonuclease on chromosome 9p13. Although it is well known as a primordial dwarfism, descriptions of the prenatal growth are missing. To add further details to the knowledge of the phenotypic spectrum of the disease, we report on two siblings with cartilage hair hypoplasia syndrome, presenting n.64C > T homozygous mutation in the mitochondrial RNA-processing endoribonuclease gene. We describe the prenatal and postnatal growth pattern of the two affected patients, showing severe pre- and post-natal growth deficiency.
软骨毛发发育不良综合征（OMIM#250250）是一种罕见的常染色体隐性干骺端发育不良，其特征为不成比例的身材矮小、毛发发育不良和可变的骨骼外表现，包括免疫缺陷、贫血、肠道疾病和癌症易感性。软骨毛发发育不良综合征具有广泛的表型，由染色体 9p13 上的线粒体 RNA 加工内切核糖核酸酶的纯合子或复合杂合突变引起。尽管它被公认为一种原始侏儒症，但缺乏对产前生长的描述。为了进一步详细了解该疾病的表型谱，我们报告了两例软骨毛发发育不良综合征的同胞，他们携带线粒体 RNA 加工内切核糖核酸酶基因中的 n.64C>T 纯合突变。我们描述了这两名受影响患者的产前和产后生长模式，显示出严重的产前和产后生长缺陷。
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