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.
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.