Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report.

American journal of medical genetics. Part A - 1 Apr 2020

Lucena Pedro H, Armani-Franceschi Giulia, Bispo-Torres Ana Cecília, Bandeira Igor D, Lucena Mariana F G, Maldonado Igor, Veiga Marielza F, Miguel Diego, Lucena Rita

Abstract excerpt

Alteration of the KPTN gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndrome characterized by macrocephaly, neurodevelopmental delay and epileptic seizures. We report the first Brazilian case of KPTN gene variation, previously described in nine subjects from four interlinked families from an Amish community in Ohio, two Estonian siblings and a 9-year-old...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brazil
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Intellectual Disability

Share to Megalencephaly

Share to Microfilament Proteins

Share to Muscle Hypotonia

Share to Syndrome

Source

Identifiers

PMID: 31999056
DOI: 10.1002/ajmg.a.61492

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report.PMID 31999056Read ↗

Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.Semantic proximity Read ↗

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.Semantic proximity Read ↗

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.Semantic proximity Read ↗

Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.Semantic proximity Read ↗

Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.Semantic proximity Read ↗

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.Semantic proximity Read ↗

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.Semantic proximity Read ↗

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.Semantic proximity Read ↗

A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D.Semantic proximity Read ↗

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.Semantic proximity Read ↗

PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome.Semantic proximity Read ↗

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single familySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.