FG syndrome

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The FG syndrome (also known as Opitz syndrome Kaveggia is) a rare disease, which is caused by a structural chromosomal abnormality of the X-chromosome and is connected to physical anomalies and developmental delays. It was first described in 1974 by John Marius Opitz and the American pediatrician Elisabeth G. Kaveggia . The main clinical features are retardation, hyperactive behavior , severe constipation , hypotension (low muscle tone) and distinctive facial features.

The syndrome should not be confused with Kaveggia syndrome (BD syndrome).

features

The FG syndrome is characterized in particular by mental retardation , usually associated with severe, hyperactive behavior and a personality disorder . Severe constipation also occurs, with or without structural abnormalities in the anus, such as anal atresia , severe muscle hypotension, and facial features characteristic of hypotension, which give people a drooping, open-mouthed expression.

The permagna parietal foramina is also often found .

In more than a third of the known cases, those affected die during childhood, usually from infections of the respiratory tract. In adulthood, deaths caused by Opitz-Kaveggia syndrome are rare.

genetics

The cause of the FG syndrome are mutations in the MED12 gene ( mediator complex subunit 12 ). The affected gene is located on the X chromosome, gene locus 13.1 .. It is 25 kB in size and consists of 44 exons . The gene product is a subunit of the mediator complex ( mediator , also called thyroid hormone receptor-associated protein (TRAP, thyroid hormone receptor-associated protein ) or vitamin D receptor interacting protein (DRIP, vitamin D receptor interacting protein)), which consists of 28 subunits is built up and 1.2 M Da is heavy.

FG syndrome is allelic with Lujan-Fryns syndrome .

history

The name FG syndrome comes from the first letters of the surname of two sisters who gave birth to a total of five sons with the syndrome. The first study on this from 1974 came to the conclusion that an abnormality of the X chromosome was the cause. A 2008 study found that island-savvy Kim Peek likely suffered from FG syndrome.

Individual evidence

  1. ↑ JM Opitz, EG Kaveggia: Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. In: Journal of Pediatrics. Volume 117, Number 1, April 1974, pp. 1-18, ISSN  0044-2917 . PMID 4365204 .
  2. ↑ OPITZ-KAVEGGIA SYNDROME.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ E. Thompson, M. Baraitser: FG syndrome. In: Journal of Medical Genetics . Volume 24, Number 3, March 1987, pp. 139-143, ISSN  0022-2593 . PMID 3572995 . PMC 1049945 (free full text).
  4. ↑ a b C. E. Schwartz, PS Tarpey et al. a .: The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. In: Journal of medical genetics. Volume 44, Number 7, July 2007, pp. 472-477, ISSN  1468-6244 . doi: 10.1136 / jmg.2006.048637 . PMID 17369503 . PMC 2597996 (free full text).
  5. ↑ JM Opitz, JF Smith, L. Santoro: The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008. In: Advances in pediatrics. Volume 55, 2008, pp. 123-170, ISSN  0065-3101 . PMID 19048730 .

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