Evidence map›Paper›PMID 33217155›Full record

ArticleMolecular genetics & genomic medicine2021

Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.

Cheng Lei, Ting Guo, Shuizi Ding, Liyan Liao, Hong Peng, Zhiping Tan, Hong Luo

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PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.9field-weighted citation impact, top 21% 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

5 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
    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 1 institution in 1 country.

Cheng LeiDepartment of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, Changsha, China.
Ting GuoDepartment of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, Changsha, China.
Shuizi DingDepartment of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, Changsha, China.
Liyan LiaoDepartment of Pathology, the Second Xiangya Hospital, Central South University, Changsha, China.
Hong PengDepartment of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, Changsha, China.
Zhiping TanClinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, China.
Hong LuoDepartment of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, Changsha, China.ORCID 0000-0002-9501-651X
Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTraboulsi syndrome is a rare disorder characterized by ectopia lentis and facial dysmorphism (large beaked nose), which was only reported in 18 individuals to date. It is caused by homozygous/compound heterozygous variants in the aspartate/asparagine-β-hydroxylase (ASPH) gene, which hydroxylates the aspartic acid and asparagine in epidermal growth factor-like domains of various proteins.

methodsWhole-exome and Sanger sequencing were used to identify the disease-causing gene of the patient in a consanguineous Chinese family. Domain analysis was applied to predict the impact of the variant on ASPH protein.

resultsThrough exome and Sanger sequencing, we identified a novel homozygous ASPH variant (NM_004318.4:c.1910del/NP_004309.2: p.(Asn637MetfsTer15)) in the patient, which may lead to blockage of the ASPH function through truncating the AspH oxygenase domain of the ASPH protein and/or nonsense-mediated decay of the ASPH transcript. This is the first report of Traboulsi syndrome in a Chinese patient who was combined with ventricular septal defect, lung bullae, and recurrent spontaneous pneumothorax.

conclusionOur results revealed the clinical characteristics of the first Chinese patient with Traboulsi syndrome. Additionally, our study expands the mutational spectrum of Traboulsi syndrome and provides information for clinical genetic counseling to this family.

Indexed as

AdultCalcium-Binding ProteinsCraniofacial AbnormalitiesEctopia LentisExome SequencingFrameshift MutationHeart Septal DefectsHomozygoteHumansMaleMembrane ProteinsMixed Function OxygenasesMuscle ProteinsNonsense Mediated mRNA DecayPedigreePhenotypeASPH protein, humanCalcium-Binding ProteinsMembrane ProteinsMixed Function OxygenasesMuscle ProteinsASPHectopia lentislung bullaepneumothoraxtraboulsi syndromeventricular septal defect

Identifiers

PMID33217155
PMCPMC7963421
OpenAlexW3104286864

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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 OpenQuestion graph.