Evidence map›Paper›PMID 34192699›Full record

ArticleHuman heredity2020

Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome.

Qin Zhang, Tiantian Qin, Wenmu Hu, Muhammad Usman Janjua, Ping Jin

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human heredity, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 86% 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

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Qin ZhangDepartment of Endocrinology, The Third Xiangya Hospital, Central South University, Changsha, China.
Tiantian QinDepartment of Endocrinology, The Third Xiangya Hospital, Central South University, Changsha, China.
Wenmu HuDepartment of Endocrinology, The Third Xiangya Hospital, Central South University, Changsha, China.
Muhammad Usman JanjuaDepartment of Endocrinology, The Third Xiangya Hospital, Central South University, Changsha, China.
Ping JinDepartment of Endocrinology, The Third Xiangya Hospital, Central South University, Changsha, China.
Third Xiangya Hospital · CNCentral South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesNonsyndromic hearing loss (NSHL) is the most frequent type of hereditary hearing impairment. Here, we explored the underlying genetic cause of NSHL in a three-generation family using whole-exome sequencing. The proband had concomitant NSHL and rare 48,XXYY Klinefelter syndrome. MATERIAL AND

methodsGenomic DNA was extracted from the peripheral blood of the proband and their family members. Sanger sequencing and pedigree verification were performed on the pathogenic variants filtered by whole-exome sequencing. The function of the variants was analyzed using bioinformatics software.

resultsThe proband was digenic heterozygous for p.V37I in the GJB2 gene and p.L347I in the MYO7A gene. The proband's mother had normal hearing and did not have any variant. The proband's father and uncle both had NSHL and were compound for the GJB2 p.V37I and MYO7A p.L347I variants, thus indicating a possible GJB2/MYO7A digenic inheritance of NSHL. 48,XXYY Klinefelter syndrome was discovered in the proband after the karyotype analysis, while his parents both had normal karyotypes.

conclusionsOur findings reported a putative GJB2/MYO7A digenic inheritance form of hearing loss, expanding the genotype and phenotype spectrum of NSHL. In addition, this is the first report of concomitant NSHL and 48,XXYY syndrome.

Indexed as

48,XXYY syndromeDigenic inheritanceGJB2Klinefelter syndromeMYO7ANonsyndromic hearing loss

Identifiers

PMID34192699
PMCPMC8491485
OpenAlexW3136142858

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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.