一个患有短指、身材矮小、少牙症和发育迟缓等可变表型的家族中的一种新突变。
A novel mutation in in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
作者信息
Scheffer-Rath Mirjam E A, Veenstra-Knol Hermine E, Boot Annemieke M
机构信息
Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.
Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.
出版信息
Bone Rep. 2023 Jul 15;19:101699. doi: 10.1016/j.bonr.2023.101699. eCollection 2023 Dec.
Mutations in (PTH-like hormone), cause brachydactyly type E (BDE) characterized by shortening of metacarpals, metatarsals and/or phalanges with short stature. In this report we describe three siblings and their mother with a novel heterozygous mutation c.25 T > C, p.Trp9Arg in exon 2 of the gene. Beside the known clinical features of PTHLH mutations all had a delay in speech and language development, unknown if this is related to the mutation. Patients with PTHLH mutation may have a variable phenotypic presentation.
甲状旁腺激素样激素（PTHLH）基因的突变会导致E型短指症（BDE），其特征为掌骨、跖骨和/或指骨缩短并伴有身材矮小。在本报告中，我们描述了三名兄弟姐妹及其母亲，他们在PTHLH基因的第2外显子中存在一种新的杂合突变c.25 T>C，p.Trp9Arg。除了PTHLH突变已知的临床特征外，所有人都有言语和语言发育迟缓的情况，尚不清楚这是否与该突变有关。PTHLH突变患者可能有不同的表型表现。
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