Valenzuela Irene, Segura-Puimedon Maria, Rodríguez-Santiago Benjamín, Fernández-Alvarez Paula, Vendrell Teresa, Armengol Lluís, Tizzano Eduardo
Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain.
Quantitative Genomic Medicine Laboratories, Ltd (qGenomics), Esplugues del Llobregat, Catalonia, Spain.
Eur J Med Genet. 2019 Mar;62(3):182-185. doi: 10.1016/j.ejmg.2018.07.007. Epub 2018 Jul 10.
PRMT7 encodes for an arginine methyltransferase that methylates arginine residues on various protein substrates and has been shown to play a role in various developmental processes. Mutations in PRMT7 have been recently shown to be implicated in a phenotype with intellectual disability, short stature and brachydactyly, and considered to be a phenocopy of pseudohypoparathyroidism. We report a patient with short stature, psychomotor delay, hearing loss and brachydactyly, for whom whole exome sequencing detected two mutations in PRMT7 and parental segregation studies detected biallelic mutation inheritance. Few patients with biallelic PRMT7 mutations have been reported so far in the literature. We report a new patient and review all reported cases to date to delineate the clinical manifestations that may help in diagnosis this disorder, known as Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures syndrome, allowing appropriate management and genetic counselling.
PRMT7编码一种精氨酸甲基转移酶，该酶可使各种蛋白质底物上的精氨酸残基发生甲基化，并且已被证明在各种发育过程中发挥作用。最近发现PRMT7突变与智力残疾、身材矮小和短指畸形的表型有关，并被认为是假性甲状旁腺功能减退的拟表型。我们报告了一名身材矮小、精神运动发育迟缓、听力丧失和短指畸形的患者，对其进行的全外显子组测序检测到PRMT7有两个突变，而亲代分离研究检测到双等位基因突变遗传。迄今为止，文献中报道的双等位基因PRMT7突变患者很少。我们报告了一名新患者，并回顾了迄今为止所有已报道的病例，以描述可能有助于诊断这种疾病（称为身材矮小、短指畸形、智力发育障碍和癫痫综合征）的临床表现，从而进行适当的管理和遗传咨询。
