Yang Jianmei, Yu Huimin, Sun Yan, Chen Chen, Li Guimei, Xu Chao
Department of Paediatric Endocrinology, Shandong Provincial Hospital affiliated to Shandong First Medical University, Jinan, China.
Department of Endocrinology, Shandong Provincial Hospital affiliated to Shandong First Medical University, Jinan, China.
Intractable Rare Dis Res. 2025 May 31;14(2):128-134. doi: 10.5582/irdr.2024.01078.
Ulnar-mammary syndrome (UMS) is caused by mutation and is a disorder characterized by altered limb, breast, tooth, hair, apocrine gland, and genital development. The clinical and genetic data of a 5.5 boy with UMS were carefully analyzed. Clinical biochemical data, pituitary MRI, and whole exome gene detection were analyzed. The impact of the mutation and stability of on the mRNA structure was analyzed by the M-fold program. Three-dimensional protein structures were calculated and analyzed. The patient presented with a hypoplastic left fifth finger, an absence of interphalangeal creases, a large space between the fourth and fifth fingers, no bending ability of the fifth finger, absent nipples, high palates, a flat nasal bridge, a micropenis, micro-testes, short stature and reduced axillary sweating. Pituitary magnetic resonance imaging (MRI) revealed pituitary gland hypoplasia with a thin pituitary stalk and loss of a strong signal in the posterior pituitary. A novel variant (c.1142_1146) in the gene was detected in the proband and further verified by DNA sequencing. M-fold results revealed that the variant altered the mRNA structure and stability of the gene. Clinical, genetic, and biochemical studies confirmed that the congenital normal idiopathic hypogonadotropic hypogonadism was associated with pituitary hypoplasia. After half a year of treatment with human chorionic gonadotropin (HCG), the micropenis was significantly improved. After 3.5 years of treatment with recombinant human growth hormone, the body height was largely improved. One novel variant of the gene was confirmed in an UMS patient, which enriched the spectrum of genotypes.
尺骨-乳腺综合征（UMS）由基因突变引起，是一种以肢体、乳房、牙齿、毛发、顶泌汗腺和生殖器发育异常为特征的疾病。对一名患有UMS的5.5岁男孩的临床和基因数据进行了仔细分析。分析了临床生化数据、垂体磁共振成像（MRI）和全外显子基因检测。通过M-fold程序分析了该突变对mRNA结构的影响及其稳定性。计算并分析了三维蛋白质结构。该患者表现为左手小指发育不全、指间褶缺失、第四和第五指之间间隙大、第五指无弯曲能力、乳头缺失、高腭弓、鼻梁扁平、小阴茎、小睾丸、身材矮小和腋窝出汗减少。垂体磁共振成像（MRI）显示垂体发育不全，垂体柄细，垂体后叶强信号消失。在先证者中检测到该基因的一个新变异（c.1142_1146），并通过DNA测序进一步验证。M-fold结果显示该变异改变了该基因的mRNA结构和稳定性。临床、基因和生化研究证实，先天性特发性低促性腺激素性性腺功能减退与垂体发育不全有关。用人绒毛膜促性腺激素（HCG）治疗半年后，小阴茎明显改善。用重组人生长激素治疗3.5年后，身高大幅提高。在一名UMS患者中证实了该基因的一个新变异，丰富了该基因的基因型谱。
