Evidence map›Paper›PMID 30997576›Full record

ArticleMedical molecular morphology2019

A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome.

Junfeng Zhou, Guiying Zhang, Meng Shi, Zhisheng Liu, Manyi Xiao, Siqi Fu, Xiaoyan Gong, Xiaoliu Shi

Abstract readCase Reports
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In one paragraph

Article in Medical molecular morphology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 41% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022
    Article
  2. Article
  3. 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

8 authors at 1 institution in 1 country.

Junfeng ZhouDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.
Guiying ZhangDepartment of Dermatology, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.
Meng ShiDepartment of Ophthalmology, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.
Zhisheng LiuDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.
Manyi XiaoDepartment of Ophthalmology, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.
Siqi FuDepartment of Dermatology, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.
Xiaoyan GongDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.
Xiaoliu ShiDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China. shixl6@csu.edu.cn.ORCID http://orcid.org/0000-0002-4167-0575
Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the development of multiple jaw keratocysts and basal cell carcinomas (BCC) and accompanied by diverse phenotypes. The establishment of diagnosis lies on the identification of a heterozygous germline pathogenic variant in the patched homolog 1 gene (PTCH1). PTCH1 has alternative splicing and selective initial coding exon, leading to three types of encoding proteins (PTCHL, PTCHM and PTCHS). The expression of each protein in NBCCS remains ambiguous, especially the importance of the first two exons in translation. Here, we report a Chinese NBCCS family of a novel PTCH1 heterozygous mutation (IVS 2, c.394+1G>T, g.10652G>T) identified by genomic sequencing and reverse-transcription-PCR as aberrant splicing. To the best of our knowledge, this is the first report of NBCCS with a splicing site mutation in intron 2 resulting in exon 2 skipping. Our finding suggests that exon 2 plays an important role in the development of NBCCS and further speculates that the role of longer isoforms PTCHL and PTCHM is crucial in NBCCS, while that of short isoform PTCHS might be dispensable.

Indexed as

Asian PeopleBasal Cell CarcinomaBasal Cell Nevus SyndromeHumansMaleMiddle AgedMutationPatched-1 ReceptorSkin NeoplasmsPatched-1 ReceptorPTCH1 protein, humanAberrant splicingExon skippingNevoid basal cell carcinoma syndromeNovel mutationPTCH1 gene

Identifiers

PMID30997576
OpenAlexW2939558571

What OpenQuestion holds

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Read underepoch 390

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.