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

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.

American journal of medical genetics. Part A - 1 Feb 2017

Meng Linyan, Donti Taraka, Xia Fan, Niu Zhiyv, Al Shamsi Aisha, Hertecant Jozef, Al-Jasmi Fatma, Gibson James B, Nagakura Honey, Zhang Jing, He Weimin, Eng Christine, Yang Yaping, Elsea Sarah H

Abstract excerpt

Pyrroline-5-carboxylate reductase 2, encoded by PYCR2, is one of the three homologous enzymes that catalyze the last step of proline synthesis. Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM: 616420). Here, we report five additional patients from three families with homozygous nonsense or missense variants in...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Codon

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hereditary Central Nervous System Demyelinating Diseases

Share to High-Throughput Nucleotide Sequencing

Share to Homozygote

Share to Metabolomics

Share to Microcephaly

Source

Identifiers

PMID: 27860360
DOI: 10.1002/ajmg.a.38049

Genes

PYCR2

Variants

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

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.PMID 27860360Read ↗

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.Semantic proximity Read ↗

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.Semantic proximity Read ↗

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.Semantic proximity Read ↗

Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.Semantic proximity Read ↗

Disease variants of human Δ1-pyrroline-5-carboxylate reductase 2 (PYCR2).Semantic proximity Read ↗

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

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

Genetic analysis of Pycr1 and Pycr2 in mice.Semantic proximity Read ↗

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.Semantic proximity Read ↗

Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.Semantic proximity Read ↗

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.Semantic proximity Read ↗

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