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طفل كالحيه Child like the snake
سبحان الله"طفل كالحيه" أسأل الله رب العرش أن يرحمه ويعوض ذويه إنه هو العليم الحكيم
تفاصيل المرض (
الطفل ياعني مرض HFS وهو مرض وراثي سببه تغير في ABCA12 ويحدث كل 300,000 مولود والطفل جله سميك بشكل غير طبيعي وهو يسمح بالإنحناء الغير طبيعي وللمزيد من المعلومات عن هذا المرض ابحث في جوجل (google) عن " harlequin fetus "
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MORE INFO:( newborn baby suffering from Harlequin Fetus Syndrome (HFS). HFS is a genetic disease caused by a mutation in the ABCA12 gene. It appears to be transmitted as an autosomal recessive manner. It occurs about once in every 300,000 live births. A baby born with HFS has abnormally thick skin. The skin does allow proper bending at joint. do a google search on harlequin fetus & u will find more information on it.)
Author: aburamesa
Keywords: People
Added: June 2, 2007
Bebe con Harlequin Ichthyosis
No es que estemos trágicos últimamente y no pongamos posts alegres, por ahí vendrá uno, pero estas son cosas de las que hay que hablar.
Ichthyosis es una familia de condiciones genéticas dermatológicas no muy común pero que se ve en humanos y animales domésticos. La palabra viene del girego ιχθύωσις que significa "pez formándose", ya que quienes sufren de esto tienen una piel escamosa, como un pez. Existen muchos tipos de Ichtyosis y se ve con mayor frecuencia en perros domésticos, especialmente en razas como Golden Retrievers, Bulldogs, Jack Russell Terriers, etc. Se puede diagnosticar simplemente viendo la piel o con la historia de la familia, y una biopsia para confirmar la enfermedad. No es más o menos común en algún tipo específico de etnia, y la exposición al sol puede afectar, tanto positiva como negativamente, y lo más lamentable es, que de momento, no hay forma de prevenirla.
Pero el Harlequin Ichtyiosis, es la más severa de esta familia, es causado por una mutación en el gen ABCA12. Se caracteriza por un engrosamiento de la capa de queratina en la piel fetal humana -hiperqueratosis- por lo que esta se ve como con escamas en forma de diamante, y toma un color rojizo, además los ojos, orejas y boca pueden tomar formas anormales. El alto contenido de queratina limita el movimiento del niño, y como fácilmente se rompe donde debería doblarse, corre un alto riesgo de infecciones fatales.
Author: Seink1
Keywords: Niño Harlequin Ichthyosis bebe baby
Added: May 6, 2007
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More Information About ABCA12
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This article is in need of attention from an expert on the subject. Please help recruit one or improve this article yourself. See the talk page for details. Please consider using {{Expert-subject}} to associate this request with a WikiProject. |
ABCA12 (ATP-binding cassette, sub-family A (ABC1), member 12) is a gene that belongs to a group of genes called the ATP-binding cassette family, which makes proteins that transport molecules across cell membranes. The ABCA12 gene is active in some types of skin cells and in several other tissues, such as testis, placenta, lung, stomach, and fetal brain and liver. The ABCA12 protein appears to be essential for normal development of the skin, which provides a barrier between the body and its surrounding environment. Although the exact function of the protein is unknown, researchers suggest that it probably plays an important role in transporting lipids (fats) in cells that make up the outermost layer of skin (the epidermis).
The ABCA12 gene is located on the long (q) arm of chromosome 2 between positions 34 and 35, from base pair 215,621,772 to base pair 215,828,656.
Related conditions
Several mutations in the ABCA12 gene are known to cause harlequin ichthyosis. Most of these mutations are predicted to lead to an absence of ABCA12 protein or the production of an extremely small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein causes numerous problems with the development of the epidermis before and after birth. Abnormalities in lipid transport prevent the skin from forming an effective barrier and result in the hard, thick scales characteristic of harlequin ichthyosis.
Mutations in the ABCA12 gene also cause another severe skin disorder, lamellar ichthyosis type 2. People with this disorder have red, scaly, plate-like skin covering most of their bodies. The ABCA12 mutations that cause this disorder substitute one amino acid (a building block of proteins) for another amino acid in the ABCA12 protein. These mutations almost always occur in an important functional region of the protein (the region that binds to ATP, a molecule that supplies energy for chemical reactions). Changes in the structure of the ABCA12 protein likely disrupt its ability to transport lipids, which affects the development of skin before and after birth.
References
- Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, Maintoux-Larois C, Devaud C, Dean M, Denefle P, Rosier M (2002). "Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34". Cytogenet Genome Res 98 (2-3): 169–76. doi:10.1159/000069811. PMID 12697999
- Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA (2005). "Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis". Am J Hum Genet 76 (5): 794–803. doi:10.1086/429844. PMID 15756637 Full text
- Lefevre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J (2003). "Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2". Hum Mol Genet 12 (18): 2369–78. doi:10.1093/hmg/ddg235. PMID 12915478
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