USP7-Related Diseases

Summarized by Plex Health
Last Updated: 08 May 2022

USP7-related diseases are triggered by changes in a protein-coding gene called USP7. Individuals with USP7 mutations also show an increased prevalence of neonatal hypotonia, feeding troubles, joint contractures, and hypogonadism. The symptoms and intensity of USP7-related diseases can differ from a single person to another. Affected individuals need to speak to their doctor and clinical team about their specific instance, linked symptoms and overall prognosis. Usually this needs input from a clinical geneticist or genetic counselor to supply one of the most recent and precise information about the disorder and go over hereditary screening options or treatment strategies. Originally, some affected infants may exhibit lessened muscular tissue tone, referred to as hypotonia, which can cause a child to feel saggy when held. Hypogonadism describes inadequate function of the sex body organs, the testes in men and the ovaries in women. The sex body organs in affected people stop working to generate enough sex hormones, which can result in underdeveloped sex organs. Testes might not be come down into the scrotal sac at the time of birth. Affected ladies may display unusually small clitoris or labia small. Dysmorphic facial features in affected individuals are nonspecific and generally variable, but can consist of deep-set eyes, straight brows, and a deeper top fold on the ears with a straight edge on the bottom of the fold. The most common intestinal feature is gastroesophageal reflux disease, which occurs when the muscular tissue at the end of the esophagus does not close correctly, allowing stomach acid to recede up into the esophagus and triggering a burning experience.

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