Evidence map›Paper›PMID 27551683›Full record

ArticleCold Spring Harbor molecular case studies2016

A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.

Laurie Beth Griffin, Frances A Farley, Anthony Antonellis, Catherine E Keegan

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

Article in Cold Spring Harbor molecular case studies, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
–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 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. 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

4 authors at 1 institution in 1 country.

Laurie Beth GriffinProgram in Cellular and Molecular Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA;; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA;
Frances A FarleyDepartment of Orthopaedic Surgery, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA;
Anthony AntonellisProgram in Cellular and Molecular Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA;; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA;; Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA;
Catherine E KeeganDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA;; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.
University of Michigan–Ann Arbor · US

Funding

MICHIGAN MEDICAL SCIENTIST TRAINING PROGRAMT32GM007863 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI COLLINS, KATHLEEN L. · 1985 to 2024
$38.3M
CELLULAR AND MOLECULAR BIOLOGY AT MICHIGANT32GM007315 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI PUTHENVEEDU, MANOJKUMAR A · 1985 to 2021
$12.8M
Dissection of genetic pathways critical for myelinating Schwann cell developmentR01NS073748 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ANTONELLIS, ANTHONY · 2011 to 2015
$1.5M
The role of glycyl-tRNA synthetase in axonal health and diseaseF30NS092238 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GRIFFIN, LAURIE BETH · 2015 to 2016
$40k
NIGMS NIH HHS T32 GM007315NIGMS NIH HHS T32 GM007863NINDS NIH HHS F30 NS092238NINDS NIH HHS R01 NS073748
6 · The paper itself

Abstract

Mutations in FGD1 cause Aarskog-Scott syndrome (AAS), an X-linked condition characterized by abnormal facial, skeletal, and genital development due to abnormal embryonic morphogenesis and skeletal formation. Here we report a novel FGD1 mutation in a family with atypical features of AAS, specifically bilateral upper and lower limb congenital joint contractures and cardiac abnormalities. The male proband and his affected maternal uncle are hemizygous for the novel FGD1 mutation p.Arg921X. This variant is the most carboxy-terminal FGD1 mutation identified in a family with AAS and is predicted to truncate the FGD1 protein at the second to last amino acid of the carboxy-terminal pleckstrin homology (PH) domain. Our study emphasizes the importance of the 3' peptide sequence in the structure and/or function of the FGD1 protein and further demonstrates the need to screen patients with X-linked congenital joint contractures for FGD1 mutations.

Indexed as

ankyloglossiabilateral cryptorchidismclinodactyly of the fifth fingercongenital foot contracturesdecreased palmar creasesdeep philtrumdownslanted palpebral fissuresflexion contracturelow-set, posteriorly rotated earsmetatarsus adductusnonrestrictive ventricular septal defectshawl scrotumshort noseunilateral ptosis

Identifiers

PMID27551683
PMCPMC4990810
OpenAlexW2337538938

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.