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Inheritance, gene, fun fact, variation, affects,
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Which gene affect cause dwafism, DWARF1 or SHOX or FGFR3 or IGF1?
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Dwarfism is a medical condition that results in individuals being shorter than average for their age and gender. The condition can occur due to genetic or non-genetic causes. In this paper, we will focus on genetic causes of dwarfism, specifically the genes DWARF1, SHOX, FGFR3, and IGF1. We will discuss the inheritance pattern of these genes, their role in causing dwarfism, and how variations in these genes can affect an individual's growth.
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Dwarfism can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Autosomal dominant inheritance occurs when a person inherits one copy of the abnormal gene from either parent. Autosomal recessive inheritance occurs when a person inherits two copies of the abnormal gene, one from each parent. X-linked inheritance occurs when the abnormal gene is located on the X chromosome, and males are more likely to be affected than females.
DWARF1 is a gene located on chromosome 5 that codes for a protein called fibroblast growth factor receptor 3 (FGFR3). Mutations in the DWARF1 gene can result in achondroplasia, the most common form of dwarfism. Achondroplasia is inherited in an autosomal dominant manner and occurs in about 1 in 15,000 to 40,000 live births. People with achondroplasia have short arms and legs, a large head with a prominent forehead, and a flattened bridge of the nose.
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SHOX is a gene located on the X and Y chromosomes that plays a role in bone growth. Mutations in the SHOX gene can cause short stature in both males and females. SHOX mutations can be inherited in an autosomal dominant manner or an X-linked manner. Short stature due to SHOX mutations can vary in severity, and affected individuals may have disproportionately short arms and legs.
FGFR3 is a gene located on chromosome 4 that codes for a protein called fibroblast growth factor receptor 3. Mutations in the FGFR3 gene can result in various forms of dwarfism, including achondroplasia and hypochondroplasia. Hypochondroplasia is a milder form of dwarfism than achondroplasia and is also inherited in an autosomal dominant manner. People with hypochondroplasia have short arms and legs, a large head, and a prominent forehead.
IGF1 is a gene located on chromosome 12 that codes for a protein called insulin-like growth factor 1. Mutations in the IGF1 gene can result in short stature, but not necessarily dwarfism. The severity of short stature due to IGF1 mutations can vary widely.
In conclusion, dwarfism is a medical condition that can result from mutations in several genes, including DWARF1, SHOX, FGFR3, and IGF1. These genes can be inherited in different patterns and affect bone growth in various ways, resulting in different forms of dwarfism. Understanding the genetic causes of dwarfism can help with diagnosis, management, and genetic counseling for affected individuals and their families.
References:
Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007 Mar 10;369(9561):1591-602. doi: 10.1016/S0140-6736(07)60753-4. PMID: 17403336.
Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T, De Sanctis V,
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