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

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: 61642...

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Veröffentlicht in:	American journal of medical genetics. Part A 2017-02, Vol.173 (2), p.460-470
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Alleles Amino Acid Substitution Blindness Brain - abnormalities Carboxylate reductase Child Child, Preschool Codon Corpus callosum Cortex DNA Mutational Analysis Etiology Exome exome sequencing Female Gait Genetic Association Studies Growth Charts Hereditary Central Nervous System Demyelinating Diseases - diagnosis Hereditary Central Nervous System Demyelinating Diseases - genetics High-Throughput Nucleotide Sequencing Homozygote Humans hypomyelinating leukodystrophy Leukodystrophy Magnetic resonance imaging Male Metabolism Metabolites Metabolomics Metabolomics - methods Microcephaly Microcephaly - diagnosis Microcephaly - genetics Microencephaly Mutation Myelination Pedigree Phenotype Phenotypes Proline proline synthesis PYCR2 Pyrroline Carboxylate Reductases - genetics pyrroline‐5‐carboxylate reductase 2 Seizures Spasticity Substantia alba Vomiting
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