Evidence map›Paper›PMID 26918030›Full record

ArticleMolecular cytogenetics2016

Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.

Kinga Hadzsiev, Katalin Komlosi, Marta Czako, Balazs Duga, Renata Szalai, Andras Szabo, Etelka Postyeni, Titanilla Szabo, Gyorgy Kosztolanyi, Bela Melegh

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PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular cytogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
2.1field-weighted citation impact, top 12% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

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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

10 authors at 1 institution in 1 country.

Kinga HadzsievDepartment of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary ; Szentagothai Research Center, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary.
Katalin KomlosiDepartment of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary ; Szentagothai Research Center, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary.
Marta CzakoDepartment of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary ; Szentagothai Research Center, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary.
Balazs DugaDepartment of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary ; Szentagothai Research Center, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary.
Renata SzalaiDepartment of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary ; Szentagothai Research Center, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary.
Andras SzaboDepartment of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary.
Etelka PostyeniDepartment of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary.
Titanilla SzaboDepartment of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary.
Gyorgy KosztolanyiDepartment of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary ; Szentagothai Research Center, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary.
Bela MeleghDepartment of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary ; Szentagothai Research Center, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary.
University of Pecs · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundKleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmouth with macroglossia - and childhood hypotonia. Some additional symptoms are observed in different percentage of the patients. Epilepsy is common symptom as well. The underlying cause of the syndrome is a submicroscopic deletion in the chromosomal region 9q34.3 or disruption of the euchromatin histone methyl transferase 1. CASE PRESENTATION: We describe two Hungarian Kleefstra syndrome patients, one with the classic phenotype of the syndrome, the diagnosis was confirmed by subtelomeric FISH. Meanwhile in our second patient beside the classic phenotype a new symptom - abnormal antiepileptic drug metabolic response - could be observed. Subtelomere FISH confirmed the 9q34.3 terminal deletion. Because of the abnormal drug metabolism in our second patient, we performed array CGH analysis as well searching for other rearrangements. Array CGH analysis indicated a large - 1.211 Mb -, deletion only in the 9q subtelomeric region with breakpoints ch9:139,641,471-140,852,911.

conclusionsThis is the first report on Kleefstra syndrome in patients describing a classical and a complex phenotype involving altered drug metabolism.

Indexed as

9q subtelomeric deletion syndromeDrug metabolismEpilepsyKleefstra syndrome

Identifiers

PMID26918030
PMCPMC4766673
OpenAlexW2283062990

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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 OpenQuestion graph.