Novel STAG2 variant expands Mullegama-Klein-Martinez Syndrome phenotype

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY
Cormac Duff , Samy Allawendy , Andrew J. Green , Michael Riordan , Eirin Carolan , Jacqueline McBrien
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引用次数: 0

Abstract

We present a novel case of a female patient with a de novo heterozygous splice site pathogenic variant STAG2 (NM_001042749.3):c.1196 + 4_1196+7del. The STAG2 gene encodes "Stromal Antigen 2" (STAG2), a fundamental subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Pathogenic STAG2 gene variants are associated with Mullegama-Klein-Martinez Syndrome (MKMS), a rare X-linked cohesinopathy. This patient exhibits symptoms not previously associated with MKMS, thereby expanding the known clinical phenotype of this rare disease. The patient has severe intellectual disability, microcephaly, short stature, and a single front tooth. She also has an ectopic posterior pituitary gland, resulting in vasopressin deficiency (formerly known as central diabetes insipidus), which was associated with adipsia, causing profound hypernatraemic dehydration and acute renal failure necessitating peritoneal dialysis. STAG2 pathogenic variants should prompt in-depth imaging of the pituitary fossa for pituitary malformations. Clinical and biochemical screening and surveillance should be performed to identify pituitary dysfunction.
新的STAG2变异扩大了Mullegama-Klein-Martinez综合征的表型。
我们报告了一例女性患者的新病例,其杂合剪接位点致病性变异STAG2 (NM_001042749.3):c.1196+4_1196+7del。STAG2基因编码“基质抗原2”(STAG2),这是内聚蛋白复合物的一个基本亚基,在细胞分裂过程中调节姐妹染色单体的分离。致病性STAG2基因变异与Mullegama-Klein-Martinez综合征(MKMS)有关,MKMS是一种罕见的x连锁黏结病。该患者表现出以前与MKMS不相关的症状,从而扩大了这种罕见疾病的已知临床表型。患者有严重的智力障碍,小头畸形,身材矮小,只有一颗门牙。她还患有垂体后叶异位,导致抗利尿激素缺乏(以前称为中枢性尿崩症),这与脂肪缺失有关,导致严重高钠血症性脱水和急性肾功能衰竭,需要进行腹膜透析。对于垂体畸形,STAG2致病变异应提示对垂体窝进行深入成像。应进行临床和生化筛查和监测以确定垂体功能障碍。
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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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