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

doi:10.1016/j.ajhg.2015.03.003

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Article

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

American journal of human genetics - 7 May 2015

Nakayama Tojo, Al-Maawali Almundher, El-Quessny Malak, Rajab Anna, Khalil Samir, Stoler Joan M, Tan Wen-Hann, Nasir Ramzi, Schmitz-Abe Klaus, Hill R Sean, Partlow Jennifer N, Al-Saffar Muna, Servattalab Sarah, LaCoursiere Christopher M, Tambunan Dimira E, Coulter Michael E, Elhosary Princess C, Gorski Grzegorz, Barkovich A James, Markianos Kyriacos, Poduri Annapurna, Mochida Ganeshwaran H

Abstract excerpt

Despite recent advances in understanding the genetic bases of microcephaly, a large number of cases of microcephaly remain unexplained, suggesting that many microcephaly syndromes and associated genes have yet to be identified. Here, we report mutations in PYCR2, which encodes an enzyme in the proline biosynthesis pathway, as the cause of a unique syndrome characterized by postnatal microcephaly, hypomyelination,...

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Identifiers

PMID: 25865492
DOI: 10.1016/j.ajhg.2015.03.003
PMCID: PMC4570282

Genes

PYCR2
PYCR1

Variants

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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.

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