Fanconi anemia causes: Difference between revisions

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Revision as of 17:39, 20 June 2018

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Fanconi anemia an autosomal recessive genetic disorder..

Causes

There are at least 13 genes of which mutations are known to cause FA.

Common Genes

FANCA

FANCB,

FANCC

FANCD1 (BRCA2)

FANCD2,

FANCE,

FANCF

FANCG

Less common

FANCI

FANCJ (BRIP1)

FANCL

FANCM

FANCN (PALB2)

FANCP (SLX4)

FANCS (BRCA1)

RAD51C

XPF.

Mechanism

For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition. If both parents are carriers, there is a 25% risk with each pregnancy for the mother to have an affected child. Approximately 1,000 persons worldwide presently suffer from the disease. The carrier frequency in the Ashkenazi Jewish population is about 1/90. Genetic counseling and genetic testing is recommended for families that may be carriers of Fanconi anemia.File:Autorecessive.svg

References

@@ Line 5: / Line 5: @@
 ==Overview==
+Fanconi anemia an autosomal recessive genetic disorder..
 ==Causes==
-FA is primarily an [[autosomal]] [[recessive gene]]tic condition.  There are at least 13 genes of which mutations are known to cause FA: A, B, C, D1, D2, E, F, G, I, J, L, M and N.  FANCB is the one exception to FA being autosomal recessive, as this gene is on the [[X chromosome]].  For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition.  If both parents are carriers, there is a 25% risk ''with each pregnancy'' for the mother to have an affected child.  Approximately 1,000 persons worldwide presently suffer from the disease.  The carrier frequency in the Ashkenazi Jewish population is about 1/90.  [[Genetic counseling]] and [[genetic testing]] is recommended for families that may be carriers of Fanconi anemia.
+There are at least 13 genes of which mutations are known to cause FA.
-[[Image:autorecessive.svg|thumb|160px|left|Autosomal recessive gene]]
+=== Common Genes ===
-<br clear="left"/>
+ FANCA
+FANCB,
+FANCC
+FANCD1 (BRCA2)
+FANCD2,
+FANCE,
+FANCF
+FANCG
+=== Less common ===
+FANCI
+FANCJ (BRIP1)
+FANCL
+FANCM
+FANCN (PALB2)
+FANCP (SLX4)
+FANCS (BRCA1)
+RAD51C
+XPF.
+=== Mechanism ===
+For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition.  If both parents are carriers, there is a 25% risk ''with each pregnancy'' for the mother to have an affected child.  Approximately 1,000 persons worldwide presently suffer from the disease.  The carrier frequency in the Ashkenazi Jewish population is about 1/90.  [[Genetic counseling]] and [[genetic testing]] is recommended for families that may be carriers of Fanconi anemia.[[Image:autorecessive.svg|thumb|160px|left|Autosomal recessive gene]]
+<br clear="left" />
 ==References==