Evidence map›Paper›PMID 39425091›Full record

ArticleBMC medical genomics2024

Identification of a novel FGF3 variant and a new phenotype in three LAMM syndrome families.

Qiang Du, Yike Zhang, Rujian Hong, Nuermaimaiti Tulamaiti, Maiheba Abulaiti, Nueraili Awuti, Wulamu Wusiman, Xirinayi Alimu, Ayinuer Wusiman, Nueraihaimaiti Kadier and 7 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

17 authors.

Qiang Du *Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, ENT Institute and Otorhinolaryngology, Fudan University, Shanghai, 200031, China.
Yike Zhang *Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, ENT Institute and Otorhinolaryngology, Fudan University, Shanghai, 200031, China.
Rujian Hong *Department of Radiology, Eye & ENT Hospital, Fudan University, Shanghai, 200031, China.
Nuermaimaiti TulamaitiDepartment of Otorhinolaryngology, Kashi Prefecture Second People's Hospital, Xinjiang Uygur Autonomous Region, Xinjiang, 844000, China.
Maiheba AbulaitiDepartment of Otorhinolaryngology, Kashi Prefecture Second People's Hospital, Xinjiang Uygur Autonomous Region, Xinjiang, 844000, China.
Nueraili AwutiDepartment of Otorhinolaryngology, Kashi Prefecture Second People's Hospital, Xinjiang Uygur Autonomous Region, Xinjiang, 844000, China.
Wulamu WusimanDepartment of Otorhinolaryngology, Kashi Prefecture Second People's Hospital, Xinjiang Uygur Autonomous Region, Xinjiang, 844000, China.
Xirinayi AlimuDepartment of Otorhinolaryngology, Kashi Prefecture Second People's Hospital, Xinjiang Uygur Autonomous Region, Xinjiang, 844000, China.
Ayinuer WusimanDepartment of Otorhinolaryngology, Kashi Prefecture Second People's Hospital, Xinjiang Uygur Autonomous Region, Xinjiang, 844000, China.
Nueraihaimaiti KadierDepartment of Otorhinolaryngology, Kashi Prefecture Second People's Hospital, Xinjiang Uygur Autonomous Region, Xinjiang, 844000, China.
Huilin LiDepartment of Otorhinolaryngology, Kashi Prefecture Second People's Hospital, Xinjiang Uygur Autonomous Region, Xinjiang, 844000, China.
Zhifei ZhangDepartment of Otorhinolaryngology, Kashi Prefecture Second People's Hospital, Xinjiang Uygur Autonomous Region, Xinjiang, 844000, China.
Huan QiDepartment of Otorhinolaryngology, Kashi Prefecture Second People's Hospital, Xinjiang Uygur Autonomous Region, Xinjiang, 844000, China.
Zhipeng XiaDepartment of Radiology, Eye & ENT Hospital, Fudan University, Shanghai, 200031, China.
Ayituersun AbudukeyoumuDepartment of Otorhinolaryngology, Kashi Prefecture Second People's Hospital, Xinjiang Uygur Autonomous Region, Xinjiang, 844000, China.
Huawei LiDepartment of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, ENT Institute and Otorhinolaryngology, Fudan University, Shanghai, 200031, China. hwli@shmu.edu.cn.
Luo GuoDepartment of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, ENT Institute and Otorhinolaryngology, Fudan University, Shanghai, 200031, China. guoluo.gary@foxmail.com.

Funding

National Key R&D Program of China Nos. 2017YFA0103900, 2016YFC0905200National Natural Science Foundation of China Nos. 82192860, 81620108005, 81500801, 81830029Natural Science Fund of Xinjiang Uygur Autonomous Region 2022D01F16Shanghai Municipal Health Commission Nos. 201840277
6 · The paper itself

Abstract

Over 700 syndromes associated with hearing loss (HL) have been identified. Labyrinthine aplasia, microtia, and microdontia (LAMM syndrome, OMIM: 610706) is a rare HL syndrome characterized by congenital sensorineural HL, labyrinthine aplasia, type I microtia and microdontia, which is caused by biallelic variants in the FGF3 gene. Using Whole-exome sequencing (WES), we identified a novel missense FGF3 variant (c.137G > C, p. Arg46Pro (NM_005247.4) in three unrelated Uyghur ethnic families. This variant is classified as a variant of uncertain significance according to ACMG guidelines, with the applied criteria of PM3, PM2_Supporting, PP3 and PP4. Patients from the three families revealed variable clinical features. We found a novel phenotype, sparse hair, in one of the proband. Our findings expanded the variant and phenotype spectrum of LAMM syndrome and provided new insights to the diagnose and pathogenesis investigation of the disease.

Indexed as

Fibroblast Growth Factor 3PedigreePhenotypeAdultChildChild, PreschoolCongenital MicrotiaExome SequencingFemaleHearing Loss, SensorineuralHumansMaleMutation, MissenseSyndromeFGF3 protein, humanFibroblast Growth Factor 3Labyrinthine aplasiaMicrotia and microdontiaSensorineural hearing lossWhole-exome sequencing (WES)

Identifiers

PMID39425091
PMCPMC11487696

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.