Evidence map›Paper›PMID 30142437›Full record

ArticleEuropean journal of medical genetics2019

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.

Anil Kanthi, Malavika Hebbar, Stephanie L Bielas, Katta M Girisha, Anju Shukla

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

Article in European journal of medical genetics, 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
–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

3 citing papers in PubMed.

  1. Review
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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

5 authors.

Anil KanthiDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Malavika HebbarDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Stephanie L BielasDepartment of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Katta M GirishaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Anju ShuklaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address: anju.shukla@manipal.edu.

Funding

Genetic Diagnosis of Neurodevelopmental Disorders in IndiaR01HD093570 · NICHD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BIELAS, STEPHANIE LEE · 2018 to 2024
$2.3M
Role of histone ubiquitination in neurodevelopment and diseaseR01NS101597 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BIELAS, STEPHANIE LEE · 2018 to 2022
$2.0M
Genetic Diagnosis of Heritable Neurodevelopmental Disorders with Exome SequencingR21NS094047 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BIELAS, STEPHANIE LEE · 2015 to 2016
$341k
NICHD NIH HHS R01 HD093570NINDS NIH HHS R01 NS101597NINDS NIH HHS R21 NS094047
6 · The paper itself

Abstract

Biallelic pathogenic variants in KLHL7 are known to result in Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) like phenotype and Bohring-Opitz-like syndrome. In this report, a trio whole-exome sequencing (WES) was performed in proband with cold-induced sweating, microcephaly, facial dysmorphism, spasticity, failure to thrive, pigmentary abnormalities of the retina, hypoplasia of corpus callosum and periventricular nodular heterotopia. A novel homozygous in-frame deletion was identified in exon 2 of KLHL7, affecting the BTB domain of the protein. Our findings expand the clinical and molecular spectrum of KLHL7-related disorders.

Indexed as

Gene DeletionPhenotypeAutoantigensCraniosynostosesDeath, SuddenFaciesHand Deformities, CongenitalHomozygoteHumansHyperhidrosisInfantIntellectual DisabilityMaleProtein DomainsTrismusAutoantigensKLHL7 protein, humanBohring-Opitz-like syndromeCrisponi/CISS1-like syndromeExome sequencingKLHL7

Identifiers

PMID30142437
PMCPMC6386622

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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.