X连锁有时被误诊为常染色体显性遗传RP RP

福娃晶晶

转自抗盲基金会网站

2013年2月13号-由博士领导的研究小组 斯蒂芬·Daiger ，大学的研究人员从得克萨斯大学健康科学中心在休斯敦，利用基因测试，以确定8.5％的人认为是常染色体显性遗传视网膜色素变性（ADRP），居然有X-连锁RP（XLRP）。研究人员测试了个人初步诊断为ADRP从一组，共258户家庭。基金会资助的研究结果最近发表在该杂志调查眼科及视觉科学博士 Daiger说，这些结果有实质性的影响“，在确定哪些家庭成员可以继承RP和新兴的治疗方法，如基因特异性的治疗方法，可能是有益的风险。“博士 Daiger的研究结果强调了重要性，与视网膜疾病的基因检测和咨询的人，“斯蒂芬·罗斯博士说，基金会的首席研究官。“RP是复杂多样的条件。” 虽然基因诊断可以是具有挑战性的获得，它可以绘制更清楚地了解受影响家庭的的继承风险和将来的治疗机会。“ 在常染色体显性遗传性疾病，父母一方通常条件下（例如，RP），并有50％的机会其传递给孩子。在这种情况下，这种疾病是经常看到在一个家庭的几代人。此外，男性和女性同样可能受到影响;一个人的性别不发挥作用，在确定的风险，获得的条件。至目前为止，在23个基因的缺陷导致ADRP。科学界的认识，具有更复杂的遗传模式，XLRP，最近发生了变化。人们已经知道多年，男性与XLRP突变总是受到影响，往往严重。专家们还认为，女性进行X-连锁突变的RP并没有受到影响，但有50％的机会通过疾病以及他们的儿子。但最近的研究发现，其实，女性携带者受到影响，有时男性严重。然而，XLRP是不是因为基因不同ADRP;三种基因- RPGR，RP2和OFD1 -造成一个巨大的大多数情况下，在遗传学和基因检测的信息是可用的，免费的，在基金会的网站上。除了进行基因研究，博士Daiger保持RetNet，基金会资助的，在线目录，所有已知的视网膜疾病基因。这是一个非常宝贵的，无成本的参考资源的国际研究团体和有兴趣的人在视网膜疾病的基因。

福娃晶晶

X-Linked RP Sometimes Misdiagnosed as Autosomal Dominant RP
Feb. 13, 2013 – A team led by Dr. Stephen Daiger, a researcher from the University of Texas Health Science Center in Houston, used genetic testing to determine that 8.5 percent of people thought to have autosomal dominant retinitis pigmentosa (adRP) actually have X-linked RP (XLRP). The investigators tested individuals from a group of 258 families initially diagnosed with adRP. Results of the Foundation-funded study were recently published in the journal Investigative Ophthalmology and Visual Science.

Dr. Daiger says these results have “substantive implications” in determining which family members may be at risk for inheriting RP and which emerging treatments, such as a gene-specific therapy, may be beneficial.

“Dr. Daiger’s findings underscore the importance of genetic testing and counseling for people with retinal diseases,” says Dr. Stephen Rose, the Foundation’s chief research officer. “RP is a complex and diverse group of conditions. While a genetic diagnosis can be challenging to obtain, it can paint a clearer picture of inheritance risks and future treatment opportunities for affected families.”

In autosomal dominant diseases, one parent usually has the condition (e.g., RP) and has a 50 percent chance of passing it along to a child. In these cases, the disease is often seen in several generations of a family. Also, males and females are equally likely to be affected; a person’s gender plays no role in determining the risk of getting the condition. To date, defects in 23 genes are known to cause adRP.

The science community’s understanding of XLRP, which has a more complex inheritance pattern, has changed recently. It has been known for many years that males with an XLRP mutation are always affected, often severely. Experts also believed that females who carried an X-linked mutation were not affected by RP but had a 50 percent chance of passing the disease along to their sons.

But recent studies have revealed that female carriers can, in fact, be affected, sometimes as severely as males. However, XLRP is not as genetically diverse as adRP; three genes — RPGR, RP2 and OFD1 — cause a vast majority of cases.

Information on genetics and genetic testing is available, for free, on the Foundation’s website.

In addition to conducting genetic research, Dr. Daiger maintains RetNet, a Foundation-funded, online catalogue of all known retinal disease genes. It is an invaluable, no-cost reference resource for the international research community and anyone interested in retinal disease genetics.

福娃晶晶

X-Linked RP Sometimes Misdiagnosed as Autosomal Dominant RP
Feb. 13, 2013 – A team led by Dr. Stephen Daiger, a researcher from the University of Texas Health Science Center in Houston, used genetic testing to determine that 8.5 percent of people thought to have autosomal dominant retinitis pigmentosa (adRP) actually have X-linked RP (XLRP). The investigators tested individuals from a group of 258 families initially diagnosed with adRP. Results of the Foundation-funded study were recently published in the journal Investigative Ophthalmology and Visual Science.

Dr. Daiger says these results have “substantive implications” in determining which family members may be at risk for inheriting RP and which emerging treatments, such as a gene-specific therapy, may be beneficial.

“Dr. Daiger’s findings underscore the importance of genetic testing and counseling for people with retinal diseases,” says Dr. Stephen Rose, the Foundation’s chief research officer. “RP is a complex and diverse group of conditions. While a genetic diagnosis can be challenging to obtain, it can paint a clearer picture of inheritance risks and future treatment opportunities for affected families.”

In autosomal dominant diseases, one parent usually has the condition (e.g., RP) and has a 50 percent chance of passing it along to a child. In these cases, the disease is often seen in several generations of a family. Also, males and females are equally likely to be affected; a person’s gender plays no role in determining the risk of getting the condition. To date, defects in 23 genes are known to cause adRP.

The science community’s understanding of XLRP, which has a more complex inheritance pattern, has changed recently. It has been known for many years that males with an XLRP mutation are always affected, often severely. Experts also believed that females who carried an X-linked mutation were not affected by RP but had a 50 percent chance of passing the disease along to their sons.

But recent studies have revealed that female carriers can, in fact, be affected, sometimes as severely as males. However, XLRP is not as genetically diverse as adRP; three genes — RPGR, RP2 and OFD1 — cause a vast majority of cases.

Information on genetics and genetic testing is available, for free, on the Foundation’s website.

In addition to conducting genetic research, Dr. Daiger maintains RetNet, a Foundation-funded, online catalogue of all known retinal disease genes. It is an invaluable, no-cost reference resource for the international research community and anyone interested in retinal disease genetics.