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

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Annals of neurology - 1 Jul 2016

Zaki Maha S, Bhat Gifty, Sultan Tipu, Issa Mahmoud, Jung Hea-Jin, Dikoglu Esra, Selim Laila, G Mahmoud Imam, Abdel-Hamid Mohamed S, Abdel-Salam Ghada, Marin-Valencia Isaac, Gleeson Joseph G

Abstract excerpt

OBJECTIVE: A study was undertaken to characterize the clinical features of the newly described hypomyelinating leukodystrophy type 10 with microcephaly. This is an autosomal recessive disorder mapped to chromosome 1q42.12 due to mutations in the PYCR2 gene, encoding an enzyme involved in proline synthesis in mitochondria. METHODS: From several international clinics, 11 consanguineous families were identified with...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Failure to Thrive

Share to Fibroblasts

Share to Microcephaly

Share to Mutation, Missense

Share to Primary Cell Culture

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 27130255
DOI: 10.1002/ana.24678
PMCID: PMC4938747

Genes

PYCR2

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

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.PMID 27130255Read ↗

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

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

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

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

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

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

First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants.Semantic proximity Read ↗

TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.Semantic proximity Read ↗

Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.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 ↗

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical ReviewSemantic proximity Read ↗

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