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Article

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.

American journal of medical genetics. Part A - 1 Jun 2011

Lin Dar-Shong, Yeung Chun-Yan, Liu Hsuan-Liang, Ho Che-Sheng, Shu Chyong-Hsin, Chuang Chih-Kuang, Huang Yu-Wen, Wu Tsu-Yen, Huang Zon-Darr, Jian Yuan-Ren, Lin Shuan-Pei

Abstract excerpt

The autosomal recessive form of type II cutis laxa (ARCL II) is characterized by the appearance of redundant, inelastic skin with wrinkling, an aged look and additional variable systemic involvement including intrauterine growth retardation, failure to thrive, developmental delay, dysmorphism, osseous abnormality, and CNS manifestations. Several genetic defects have been found in patients and families with the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21567914
DOI: 10.1002/ajmg.a.33963

Genes

PYCR1

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

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A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.PMID 21567914Read ↗

Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.Semantic proximity Read ↗

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.Semantic proximity Read ↗

Mutations in PYCR1 cause cutis laxa with progeroid features.Semantic proximity Read ↗

Novel compound-heterozygous variants in PYCR1 broaden the mutation spectrum of autosomal-recessive cutis laxaSemantic proximity Read ↗

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.Semantic proximity Read ↗

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.Semantic proximity Read ↗

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.Semantic proximity Read ↗

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.Semantic proximity Read ↗

PYCR1 Levels Track with Premature and Chronological Skin AgingSemantic proximity Read ↗

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.Semantic proximity Read ↗

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.Semantic proximity Read ↗

Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.Semantic proximity Read ↗

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