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Article

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2019

Peter Virginie G, Quinodoz Mathieu, Pinto-Basto Jorge, Sousa Sergio B, Di Gioia Silvio Alessandro, Soares Gabriela, Ferraz Leal Gabriela, Silva Eduardo D, Pescini Gobert Rosanna, Miyake Noriko, Matsumoto Naomichi, Engle Elizabeth C, Unger Sheila, Shapiro Frederic, Superti-Furga Andrea, Rivolta Carlo, Campos-Xavier Belinda

Abstract excerpt

PURPOSE: We observed four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. The phenotype precisely matched that of an individual of Azorean descent published in 1986 by Liberfarb and coworkers. METHODS: Patients...

Read the complete abstract on PubMed

Topics

Adolescent
Adult
Brazil
Carboxy-Lyases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Exome

Female

Genotype

HEK293 Cells

Hearing Loss, Sensorineural

Humans

Intellectual Disability

Male

Microcephaly

Musculoskeletal Abnormalities

Osteochondrodysplasias

Pedigree

Phenotype

Portugal

Source

Open in PubMed Open full text

Identifiers

PMID: 31263216
DOI: 10.1038/s41436-019-0595-x
PMCID: PMC6892740

Genes

PISD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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