Evidence map›Paper›PMID 40662097›Full record

ArticleGlobal medical genetics2025

Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review.

Joan Chern-Hui Lien, Vinay D Chandrasekaran, Tarachandra M Narumanchi, Melissa S Napoli, Jo Elle G Peterson, Charles A Williams

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Global medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Joan Chern-Hui LienSection of Neonatal-Perinatal Medicine, University of Oklahoma College of Medicine, Oklahoma City, OK, USA.
Vinay D ChandrasekaranGenetics Specialty Clinic, Children's Hospital, Oklahoma University Health Science Center, Oklahoma City, OK, USA.
Tarachandra M NarumanchiGenetics Specialty Clinic, Children's Hospital, Oklahoma University Health Science Center, Oklahoma City, OK, USA.
Melissa S NapoliGenetics Specialty Clinic, Children's Hospital, Oklahoma University Health Science Center, Oklahoma City, OK, USA.
Jo Elle G PetersonDepartment of Pathology, University of Oklahoma College of Medicine, Oklahoma City, OK, USA.
Charles A WilliamsGenetics Specialty Clinic, Children's Hospital, Oklahoma University Health Science Center, Oklahoma City, OK, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report on a rare 110 kilobase contiguous gene deletion within chromosome region Xq28, encompassing 7 annotated Online Mendelian Inheritance in Man (OMIM) genes and extending from BCAP31 to the telomeric-located PDZD4. We review 13 other reported contiguous deletions in this region and analyze their clinical phenotypes. The novel findings in our case were orofacial clefting and a vascular ring. The major clinical anomalies in our case appear to be due to the combined effects of BCAP31, SRPK3 and SSR4 deletions. This combination produces a severe neonatal disorder whose features further refine our knowledge about deletions within Xq28. Additionally, the observation of multiple nonrecurring breakpoints among the published cases suggests that the deletions occur by random chromosome breakage.

Indexed as

Contiguous gene deletionMicroarrayX chromosomeXq28

Identifiers

PMID40662097
PMCPMC12256310

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.