Evidence map›Paper›PMID 38037133›Full record

ReviewOrphanet journal of rare diseases2023

Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.

Wenyan Zhang, Ziming Yao, Ruolan Guo, Jun Cao, Wei Li, Chanjuan Hao, Xuejun Zhang

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

Review in Orphanet journal of rare diseases, 2023. 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
0.5field-weighted citation impact, top 30% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  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

7 authors at 1 institution in 1 country.

Wenyan ZhangBeijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.
Ziming YaoDepartment of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Ruolan GuoBeijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.
Jun CaoDepartment of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Wei LiBeijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.
Chanjuan HaoBeijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China. hchjhchj@163.com.ORCID 0000-0002-9220-8356
Xuejun ZhangDepartment of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. zhang-x-j04@163.com.
Capital Medical University · CN

Funding

Beijing Municipal Commission of Health and Family Planning Foundation 2022-2-1142, 2020-4-1144National Natural Science Foundation of China 32270728
6 · The paper itself

Abstract

backgroundShort stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018. This syndrome starts with pre- and postnatal developmental delay, and gradually presents with variable facial dysmorphisms, a short stature, amelogenesis imperfecta, and progressive skeletal dysplasia affecting the limbs, joints, hands, feet, and spine. CASE PRESENTATION: We identified a homozygous novel nonsense mutation in exon 1 of SLC10A7 (NM_001300842.2: c.100G > T / p.Gly34*) segregating with the typical disease phenotype in a Han Chinese family. We reviewed the 12-year surgical treatment history with seven interventions on spine.

conclusionTo date, only 12 cases of the SLC10A7 mutation have been reported, mainly from consanguineous families. Our patient showed a relatively severe and broad clinical phenotype compared with previously reported cases. In this patient, annual check-ups and timely surgeries led to a good outcome.

Indexed as

Amelogenesis ImperfectaDwarfismOsteochondrodysplasiasScoliosisHomozygoteHumansMutationOrganic Anion Transporters, Sodium-DependentPedigreeSymportersOrganic Anion Transporters, Sodium-DependentSlc10a7 protein, humanSymportersAmelogenesis imperfectaNext generation sequencing (NGS)Rare diseaseSkeletal dysplasiaSurgical prognosis

Identifiers

PMID38037133
PMCPMC10691085
OpenAlexW4389205943

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.