Talk:Beck–Fahrner syndrome/GA2

GA Review

The following discussion is closed. Please do not modify it. Subsequent comments should be made on the appropriate discussion page. No further edits should be made to this discussion.

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Reviewer: Ajpolino (talk · contribs) 13:57, 17 February 2024 (UTC)

Hi Strange Orange, a very belated welcome to Wikipedia! I'm thrilled to see a "new" editor interested in medical topics. I'll be happy to talk on this review, and will get through it as quickly as I can. I'll list concerns related to the six good article criteria below. Ajpolino (talk) 13:57, 17 February 2024 (UTC)

1. Well-written

• Signs & symptoms - Is there any way to make with neuroimaging studies occasionally revealing non-specific findings clearer (without making it too much longer)? Right now I suspect it would be meaningless to most readers.

Tried to make it more meaningful for general readers with "Affected individuals do not exhibit specific abnormalities in neuroimaging studies". We can maybe cut this sentence out if it is not adding any value to most readers. Strange Orange (talk) 19:55, 17 February 2024 (UTC)

• Diagnosis - to identify mutations or variants... - "Mutations" vs. "variants" - language is evolving here, and I understand folks make a distinction between these two terms in various ways. Is there a distinction you're trying to make here? If not, you can just cut "or variants" (since you use "mutation" throughout).

That is a good point. Done.

• Minor copyediting suggestions, not required for GA status:
  • They can occur de novo from new genetic mutations... "de novo from new" is redundant.

Agreed. Done.

2. Verifiable

• Arbitrarily selecting four references to check:
  • Levy, et al. (2021):
    • Can you point out where while ear involvement may result in hearing loss is supported? Is it just patient 1 from Seyama, et al.? If so, I'm not sure what Levy, et al. is doing for this sentence.

I am not sure why it was there. I may have become confused while attempting to piece it together and added that. Now removed.

• • • What's the purpose of referencing Sadikovic, et al. (2021) in the "Diagnosis" paragraph that describes the Levy, et al. (2021) paper?

To clarify that it is not uncommon to utilize episignatures and DNA methylation testing in cases like this. It does not contribute to the article particularly though. Removed.

• • MedGen - It looks like this is just a reprint of the OMIM entry description. Probably the two references to this should be replaced by references to the OMIM article?

Replaced.

• • Fahrner, GeneReviews:
    • Is The signs and symptoms may vary among individuals due to differences in gene expression and partial loss of gene function directly supported by the source? If it's intended to be kind of a WP:BLUESKY statement, I can probably get behind that as well.

Supported by "The above observations suggest that TET3-BEFAHRS is an autosomal dominant condition with variable expressivity and hypomorphic alleles that sometimes mimic autosomal recessive inheritance as opposed to true autosomal recessive inheritance" and other examples. Maybe not very directly, so somewhat of a BLUESKY (lovely name for an essay!). Strange Orange (talk) 19:55, 17 February 2024 (UTC)

• • What's the purpose of reference 11 (Richards, et al. 2015)?

To clarify that it is standard practice to diagnose rare genetic conditions using interpretation of variants when an affected individual is symptomatic. But you are right; it does not add to the article specifically. Now removed.

• Otherwise references look good. Reliable sources. Seems like a good survey of the limited literature available.

3. Broad in its coverage

• Is it worth a sentence to note how the syndrome got its name? I assume it's for the David Beck and Jill Fahrner listed as authors of two of the sources?

I would presume so. This mentions that Fahrner's lab "led the international collaboration to delineate Beck-Fahrner syndrome, which she previously referred to as TET3 deficiency". I cannot find a source that explicitly mentions that it is named after David Beck and Jill Fahrner. I am not sure how to approach that. Strange Orange (talk) 19:55, 17 February 2024 (UTC)

• Otherwise the article seems to broadly cover the topic.

4. Neutral

• Seems appropriate.

5. Stable

• Yes

6. Illustrated

• The three images are appropriately licensed and uploaded to Commons. It's my personal opinion that the lower half of File:Beck–Fahrner syndrome or TET3 deficiency episignature.png doesn't add much to the article and could be cropped out. But I won't insist on that being done for this review.

That's all for me! The article is in great shape. Thank you for the interesting read. If you could just clarify a few things (listed above) I think we can wrap this up as a "pass". Best, Ajpolino (talk) 18:31, 17 February 2024 (UTC)

Thank you for your recommendations! I have implemented them except for how it got its name because I was not sure about how to proceed with that. Strange Orange (talk) 19:55, 17 February 2024 (UTC)

No worries, that's fair enough. I'll update the GA templates and you should get a message from ChristieBot shortly. Thanks again for the interesting read. I hope to see more articles from you going forward! Best, Ajpolino (talk) 03:23, 18 February 2024 (UTC)

The discussion above is closed. Please do not modify it. Subsequent comments should be made on the appropriate discussion page. No further edits should be made to this discussion.