Li Wen, Lin Mengjie, Dao Jinwei, Shi Li, Yi Wei, Lei Jia, Song Yaxian, Dong Jiaolou, Zhao Meiwei, Xu Yushan, Chen Lulu
Department of Endocrinology, People's Hospital of DeHong, Dehong, Yunnan, China.
Dehong Biomedical Engineering Research Center, Dehong Teachers'College, Dehong, Yunnan, China.
Front Genet. 2025 Mar 7;16:1523228. doi: 10.3389/fgene.2025.1523228. eCollection 2025.
Kabuki syndrome (KS) is a rare autosomal dominant genetic disorder. The full understanding of KS remains elusive due to the heterogeneity of gene mutations, clinical phenotypes, and the associations and mechanisms linking genotypes to phenotypes. This study reports on a 16-year-old male patient diagnosed with type I Kabuki syndrome following the identification of a mutation, c.15535C>T (p.Arg5179Cys), in the gene.
A 16-year-old male presented with bilateral breast enlargement persisting for over 1 month. Historically, the patient exhibited intellectual disability. Both parents are healthy with no similar family history. The patient's father had a history of heroin use for 8 years prior to the patient's birth. On examination, the patient had unclear speech and slow speech rate, with diminished reading comprehension and calculation abilities. Characteristic facial features of KS were noted. Breast development was observed (Tanner stage II on the right and III on the left), with pain upon deep palpation of the left nipple. Molecular genetic testing identified a heterozygous missense mutation, c.15535C>T (p.Arg5179Cys), in thegene, confirming the diagnosis of type I Kabuki syndrome.
KS is characterized by distinctive facial features: arched eyebrows, eversion of the eyelids, long palpebral fissures, a short nasal septum, a flat nasal tip, auricular deformities, a small mandible, a high palatal arch, or cleft palate. The patient exhibited a heterozygous missense mutation in the coding region of the gene, identified as a mutation. Currently, KS management primarily involves symptomatic and rehabilitative therapies.
歌舞伎综合征（KS）是一种罕见的常染色体显性遗传病。由于基因突变、临床表型以及基因型与表型之间的关联和机制具有异质性，对KS的全面了解仍然难以捉摸。本研究报告了一名16岁男性患者，在基因中鉴定出一个突变c.15535C>T（p.Arg5179Cys）后，被诊断为I型歌舞伎综合征。
一名16岁男性出现双侧乳房增大持续超过1个月。既往史显示，该患者有智力障碍。父母双方均健康，无类似家族史。患者的父亲在患者出生前有8年海洛因使用史。体格检查发现，患者言语不清，语速缓慢，阅读理解和计算能力下降。观察到KS的特征性面部特征。观察到乳房发育（右侧为 Tanner 二期，左侧为三期），左侧乳头深触诊时有疼痛。分子遗传学检测在基因中鉴定出一个杂合错义突变c.15535C>T（p.Arg5179Cys），确诊为I型歌舞伎综合征。
KS的特征是独特的面部特征：拱形眉毛、眼睑外翻、睑裂长、鼻中隔短、鼻尖扁平、耳部畸形、小下颌、高腭弓或腭裂。该患者在基因编码区表现出一个杂合错义突变，被鉴定为一个突变。目前，KS的治疗主要包括对症治疗和康复治疗。
