Evidence map›Paper›PMID 31951325›Full record

ArticleMolecular genetics & genomic medicine2020

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.

Swati R Chanchani, Hongyan Xie, Gurbax Sekhon, Ana M Melikishvili, Sue Moyer Harasink, Harpreet Pall, Philip F Giampietro

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 58% of its field
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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Article
  2. 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

7 authors at 5 institutions in 1 country.

Swati R ChanchaniDepartment of Pediatrics St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA.
Hongyan XieTricore Reference Laboratory, Albuquerque, NM, USA.
Gurbax SekhonIntegrated Genetics, NM, Santa Fe, USA.
Ana M MelikishviliA. I. Dupont Hospital, Wilmington, DE, USA.
Sue Moyer HarasinkDepartment of Pediatrics St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA.
Harpreet PallDepartment of Pediatrics St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA.
Philip F GiampietroRutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, USA.ORCID 0000-0003-2874-8064
St. Christopher's Hospital for Children · USCommunity Health Systems - Dupont Hospital · USCredo Reference (United States) · USRutgers, The State University of New Jersey · USSequenom (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus-Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region.

methodsWe report on a male infant with intrauterine growth retardation (IUGR) who developed head titubation and spasticity during his postnatal hospital course.

resultsChromosome microarray revealed a 6.7 Mb interstitial duplication of Xq22.2q22.3. Fluorescence in situ hybridization showed that the patient's mother also possessed the identical duplication in the Xq22.3q22.3 region. Among the 34 OMIM genes in this interval, the duplication of the PLP1 (OMIM# 300401) and MID2 (OMIM# 300204) appears to be the most significant contributors to the patient's clinical features. Mutations and duplications of PLP1 are associated with X-linked recessive Pelizaeus-Merzbacher disease (PMD). A single case of a Xq22.3 duplication including the MID2 has been reported in boy with features of FG syndrome. However, our patient's clinical features are not consistent with the FG syndrome phenotype.

conclusionOur patient's clinical features appear to be influenced by the PLP1 duplication but the clinical effect of other dosage sensitive genes influencing brain development cannot be ruled out.

Indexed as

Chromosome DuplicationChromosomes, Human, XCraniofacial AbnormalitiesFetal Growth RetardationGenetic Diseases, X-LinkedHumansInfantMaleMicrotubule-Associated ProteinsMyelin Proteolipid ProteinSyndromeTranscription FactorsMicrotubule-Associated ProteinsMID2 protein, humanMyelin Proteolipid ProteinPLP1 protein, humanTranscription FactorsFG syndromeMID2Opitz-Kaveggia syndrome type 5Pelizaeus-Merzbacher diseasePLP1

Identifiers

PMID31951325
PMCPMC7057127
OpenAlexW3000300810

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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 OpenQuestion graph.