Department of Endocrinology, Xiangya Hospital, Central South University, Changsha 410008, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Dec 28;47(12):1769-1774. doi: 10.11817/j.issn.1672-7347.2022.220197.
Ulnar-Mammary syndrome (UMS) is a rare monogenic disorder caused by mutations of the gene. This paper reported a family of UMS. The proband, a 15-year old man, was presented with mammary gland dysplasia, ulnar limb defect, short stature, and delayed growth. Whole exome sequencing revealed a 1294_1301dup mutation in exon 6 of the gene. Sanger sequencing was used to verify other members of the family, which suggested his mother also carried the same mutation, but merely resulting in the dysplasia of her left little finger. Notably, unilateral finger involvement without any systemic organ involvement was unusual in UMS patients. The proband then was treated with recombinant human growth hormone (rhGH) and human chorionic gonadotropin (hCG). After a year and a half, his height and secondary sexual characteristics were significantly improved. The clinical manifestations of the disease are highly heterogeneous, which is easy to be misdiagnosed and missed. When the diagnosis is unclear, genetic testing is helpful for auxiliary diagnosis.
桡-乳腺综合征（UMS）是一种罕见的单基因疾病，由基因的突变引起。本文报道了一个 UMS 家族。先证者是一名 15 岁男性，表现为乳腺发育不良、尺骨肢体缺陷、身材矮小和生长迟缓。全外显子组测序显示基因第 6 外显子的 1294_1301dup 突变。Sanger 测序用于验证家系中的其他成员，提示其母亲也携带相同的突变，但仅导致其左手小指发育不良。值得注意的是，UMS 患者中单侧手指受累而无任何全身器官受累的情况并不常见。先证者随后接受了重组人生长激素（rhGH）和人绒毛膜促性腺激素（hCG）治疗。经过一年半的治疗，他的身高和第二性征得到了显著改善。该病的临床表现高度异质，容易误诊和漏诊。当诊断不明确时，基因检测有助于辅助诊断。
