Evidence map›Paper›PMID 28054173›Full record

ArticleHuman genetics2017

Association of AHSG with alopecia and mental retardation (APMR) syndrome.

M Reza Sailani, Fereshteh Jahanbani, Jafar Nasiri, Mahdiyeh Behnam, Mansoor Salehi, Maryam Sedghi, Majid Hoseinzadeh, Shinichi Takahashi, Amin Zia, Joshua Gruber and 9 more

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In one paragraph

Article in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.5field-weighted citation impact, top 20% 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

9 citing papers in PubMed, 16 citations in OpenAlex.

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  9. Cold Spring Harbor molecular case studies · 2018
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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

19 authors at 3 institutions in 3 countries.

M Reza SailaniDepartment of Genetics, Stanford University, Stanford, CA, USA.
Fereshteh JahanbaniDepartment of Genetics, Stanford University, Stanford, CA, USA.
Jafar NasiriChild Growth and Development Research Center, Pediatrics Department, Isfahan University of Medical Sciences, Isfahan, Iran.
Mahdiyeh BehnamMedical Genetic Laboratory of Genome, Isfahan, Iran.
Mansoor SalehiDivision of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran.
Maryam SedghiMedical Genetics Laboratory, Isfahan University Hospital, Isfahan, Iran.
Majid HoseinzadehMedical Genetics Laboratory, Isfahan University Hospital, Isfahan, Iran.
Shinichi TakahashiDepartment of Genetics, Stanford University, Stanford, CA, USA.
Amin ZiaDepartment of Genetics, Stanford University, Stanford, CA, USA.
Joshua GruberDepartment of Genetics, Stanford University, Stanford, CA, USA.
Janet Linnea LynchDepartment of Genetics, Stanford University, Stanford, CA, USA.
Daniel LamDepartment of Genetics, Stanford University, Stanford, CA, USA.
Juliane WinkelmannDepartment of Genetics, Stanford University, Stanford, CA, USA.
Semira AmirkiaiDepartment of Genetics, Stanford University, Stanford, CA, USA.
Baoxu PangDepartment of Genetics, Stanford University, Stanford, CA, USA.
Shannon RegoDepartment of Genetics, Stanford University, Stanford, CA, USA.
Safoura MazrouiClinic of Internal Medicine, Department of Cardiology, University Heart Center, Jena University Hospital, Jena, Germany.
Jonathan A BernsteinDepartment of Pediatrics, Stanford University, Stanford, CA, USA.
Michael P SnyderDepartment of Genetics, Stanford University, Stanford, CA, USA. mpsnyder@stanford.edu.
Stanford University · USIsfahan University of Medical Sciences · IRJena University Hospital · DE

Funding

NHGRI NIH HHS 1P50HG00773501NIDDK NIH HHS 8U54DK10255602
6 · The paper itself

Abstract

Alopecia with mental retardation syndrome (APMR) is a very rare autosomal recessive condition that is associated with total or partial absence of hair from the scalp and other parts of the body as well as variable intellectual disability. Here we present whole-exome sequencing results of a large consanguineous family segregating APMR syndrome with seven affected family members. Our study revealed a novel predicted pathogenic, homozygous missense mutation in the AHSG (OMIM 138680) gene (AHSG: NM_001622:exon7:c.950G>A:p.Arg317His). The variant is predicted to affect a region of the protein required for protein processing and disrupts a phosphorylation motif. In addition, the altered protein migrates with an aberrant size relative to healthy individuals. Consistent with the phenotype, AHSG maps within APMR linkage region 1 (APMR 1) as reported before, and falls within runs of homozygosity (ROH). Previous families with APMR syndrome have been studied through linkage analyses and the linkage resolution did not allow pointing out to a single gene candidate. Our study is the first report to identify a homozygous missense mutation for APMR syndrome through whole-exome sequencing.

Indexed as

Alopeciaalpha-2-HS-GlycoproteinAmino Acid SequenceBlotting, WesternConsanguinityExomeFemaleHomozygoteHumansIntellectual DisabilityMaleMutation, MissensePedigreePhosphorylationAHSG protein, humanalpha-2-HS-Glycoprotein

Identifiers

PMID28054173
OpenAlexW2567744436

What OpenQuestion holds

Textmetadata
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.