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 In depth medical review of ED

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Mira



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PostSubject: In depth medical review of ED   Thu 9 Feb 2012 - 0:51

This link provides very useful info:
http://www.ncbi.nlm.nih.gov/books/NBK1112/




There was interesting info regards inheritence which I would like someone to explain in simple words. I'll cut the text for convenience below. What is "proband"?

So what concerns me...

If I (male) have inhertied ED (mild form) from my mother and I have a daughter and son, would that mean my daughter is a carrier and not greatly affected, while my son is not affected at all, neither a carrier?? (that's what I understood in the text).





Mode of Inheritance
Hypohidrotic ectodermal dysplasia (HED) is inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

Evaluation of the proband includes review of family history and careful examination of family members to identify clinical manifestations of hypohidrotic ectodermal dysplasia (HED).The mode of inheritance may be determined by family history and/or by molecular genetic testing.

Risk to Family Members — X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)




Parents of a male proband

•The father of an affected male is neither affected nor is he a carrier.

•In a family with more than one affected individual, the mother of an affected male is an obligate carrier.

•Clinical examination may detect minimal manifestations of XLHED in the mother. Molecular genetic testing is indicated.

•When an affected male represents a simplex case (male with no known family history of XLHED), several possibilities regarding his mother's carrier status need to be considered:

•He has a de novo disease-causing mutation in EDA and his mother is not a carrier.

•His mother has a de novo disease-causing mutation in EDA, either (a) as a "germline mutation" (i.e., occurring at the time of her conception and thus present in every cell of her body); or (b) as "germline mosaicism" (i.e., occurring in a certain percentage of her germ cells only).

•His maternal grandmother has a de novo disease-causing mutation in EDA.


Parents of a female proband

•The father of a female proband may be affected.

•The proband may have inherited the gene mutation from her mother.

•The proband may have a de novo mutation in EDA.

•Clinical examination may clarify the status of the parents.




Sibs of a proband

•The risk to sibs depends on the genetic status of the parents.

•If the mother is a carrier, the chance of transmitting the EDA mutation in each pregnancy is 50%. Male sibs who inherit the mutation will be affected; female sibs who inherit the mutation will be carriers and may show minimal manifestations.

•If the mother is not a carrier, the risk to sibs is low but greater than that of the general population because the risk for germline mosaicism in mothers is not known.

•If the father is affected, none of the male sibs and all of the female sibs will inherit the mutation. The females may show minimal manifestations.



Offspring of a male proband

•A male with XLHED will transmit the disease-causing EDA allele to all of his daughters and none of his sons.

•The daughters will be obligate carriers and may show minimal manifestations.



Offspring of a female proband.

A female with XLHED will transmit the disease-causing EDA allele to half of her children, regardless of gender. Thus, her sons have a 50% risk of being affected and her daughters have a 50% risk of being carriers, who may show minimal manifestations.

Other family members of a proband. The risk to other family members depends on the status of the proband's parents. If a parent is affected or has a disease-causing mutation, family members are at risk.

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Mike
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PostSubject: Re: In depth medical review of ED   Thu 9 Feb 2012 - 21:07

Very informative, fantastic! Thanks for that!!!

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