Zabnenkova Viktoriia, Shchagina Olga, Makienko Olga, Matyushchenko Galina, Ryzhkova Oxana
Molecular Genetics Laboratory № 3 The Shared Resource Centre "Genome", Federal State Budgetary Scientific Institution Research Centre for Medical Genetics named after Academician N.P. Bochkov, Moscow, Russian Federation.
Counselling Unit, Federal State Budgetary Scientific Institution Research Centre for Medical Genetics named after Academician N.P. Bochkov, Moscow, Russian Federation.
Appl Clin Genet. 2022 Jan 6;15:1-10. doi: 10.2147/TACG.S342804. eCollection 2022.
Meier-Gorlin syndrome (MGS) is a rare genetic syndrome inherited in an autosomal dominant or autosomal recessive manner. The disorder is characterized by bilateral microtia, absence or hypoplasia of the patella, and an intrauterine growth retardation as well as a number of other characteristic features. The cause of the disease is mutations in genes encoding proteins involved in the regulation of the cell cycle (, and ). Meier-Gorlin syndrome 5 due to mutations in the gene is difficult to diagnose, and few clinical data have been described to date. Only one patient (male) with a missense mutation in a homozygous state has been previously reported. This report describes a new clinical case of Meier-Gorlin syndrome 5. This is also the first report of a Russian patient with Meier-Gorlin syndrome.
The patient, a female, had extremely low physical development, neonatal progeroid appearance, lipodystrophy, thin skin, partial alopecia, cyanosis of the face, triangular face, microgenia, arachnodactyly, delayed bone age, hepatomegaly, hypoplasia of the labia majora, and hypertrophy of the clitoris in addition to known clinical signs. Differential diagnosis was performed with chromosomal abnormalities and Hutchinson-Gilford progeria. According to the results of sequencing of the clinical exome, the patient had two previously undescribed variants in the gene, c.230A>G (p.(Lys77Arg)) and c.232C>T (p.(Gln78Ter)), NM_001254.3, in a compound heterozygous state.
This case allows us to learn more about the clinical features and nature of MGS 5 and improve the speed of diagnostics and quality of genetic counseling for such families.
迈尔 - 戈林综合征（MGS）是一种罕见的遗传性综合征，以常染色体显性或常染色体隐性方式遗传。该疾病的特征为双侧小耳畸形、髌骨缺失或发育不全、宫内生长迟缓以及许多其他特征性表现。其病因是参与细胞周期调控的蛋白质编码基因发生突变（，和）。由基因中的突变导致的迈尔 - 戈林综合征5型难以诊断，迄今为止几乎没有相关临床数据报道。此前仅报道过一名纯合状态下存在错义突变的男性患者。本报告描述了一例新的迈尔 - 戈林综合征5型临床病例。这也是俄罗斯患者患迈尔 - 戈林综合征的首例报告。
该患者为女性，除了已知的临床体征外，还存在身体发育极度迟缓、新生儿早衰外观、脂肪营养不良、皮肤薄、部分脱发、面部发绀、三角脸、小下颌、蜘蛛指、骨龄延迟、肝肿大、大阴唇发育不全以及阴蒂肥大等症状。对染色体异常和哈钦森 - 吉尔福德早衰症进行了鉴别诊断。根据临床外显子组测序结果，该患者在基因中存在两个此前未描述的变异，分别为c.230A>G（p.(Lys77Arg)）和c.232C>T（p.(Gln78Ter)），NM_001254.3，处于复合杂合状态。
该病例使我们能够更多地了解迈尔 - 戈林综合征5型的临床特征和本质，并提高对此类家庭的诊断速度和遗传咨询质量。
