Evidence map›Paper›PMID 40515401›Full record

ArticleHGG advances2025

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti.

Monica H Wojcik, Robin D Clark, Abdallah F Elias, Casie A Genetti, Jill A Madden, Dana Simpson, Linda Golkar, Miranda P G Zalusky, Angela L Miller, Araceli Rodriguez and 17 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in HGG advances, 2025. 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
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

2 citing papers in PubMed.

  1. Article
  2. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

Monica H WojcikBoston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Robin D ClarkDivision of Clinical Genetics, Loma Linda University Children's Hospital and Loma Linda University School of Medicine, Loma Linda, CA, USA.
Abdallah F EliasDepartment of Medical Genetics, Shodair Children's Hospital, Helena, MT, USA; Division of Biological Sciences, University of Montana, Missoula, MT, USA; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
Casie A GenettiBoston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Jill A MaddenBoston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Dana SimpsonRandall Children's Hospital, Portland, OR, USA.
Linda GolkarDepartment of Dermatology, Loma Linda University School of Medicine, Loma Linda, CA, USA.
Miranda P G ZaluskyDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
Angela L MillerDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
Araceli RodriguezDivision of Clinical Genetics, Loma Linda University Children's Hospital and Loma Linda University School of Medicine, Loma Linda, CA, USA.
Joy GoffenaDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
Camille A DashBoston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Nikhita DamarajuDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
Sophia B GibsonDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Sophie H R StorzDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
Zachary B AndersonDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
Jonas A GustafsonDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Molecular and Cellular Biology Program, University of Washington, Seattle, WA, USA.
Isabelle ThiffaultChildren's Mercy Hospital, Kansas City, MO, USA.
Emily G FarrowChildren's Mercy Hospital, Kansas City, MO, USA.
Tomi PastinenChildren's Mercy Hospital, Kansas City, MO, USA.
Jasmine LinBoston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Jennifer T HuangBoston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Alan H BeggsBoston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Pankaj B AgrawalBoston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium
David T MillerBoston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Danny E MillerDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA. Electronic address: dm1@uw.edu.

Funding

INTERDISCIPLINARY TRAINING IN GENOMIC SCIENCEST32HG000035 · NHGRI · UNIVERSITY OF WASHINGTON · PI Bruce Colston Trapnell · 1995 to 2026
$24.2M
Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
NHGRI NIH HHS T32 HG000035NHGRI NIH HHS U01 HG011755
6 · The paper itself

Abstract

Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical genetic testing in whom long-read sequencing identified causal variants, including one family with the common exon 4-10 deletion not identified by conventional clinical genetic testing. Concurrent methylation analysis explained disease severity in one individual who died from neurologic complications, identified a mosaic variant in an individual with an atypical presentation, and confirmed skewed X chromosome inactivation in an XXY individual.

Indexed as

Incontinentia PigmentiChild, PreschoolDNA MethylationFemaleHigh-Throughput Nucleotide SequencingHumansI-kappa B KinaseInfantMalePedigreeI-kappa B KinaseIKBKG protein, humanIKBKGincontinentia pigmentilong-read sequencingmethylationpseudogeneskewed X chromosome inactivationstructural variation

Identifiers

PMID40515401
PMCPMC12256307

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.