Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

BMC Medical Genetics
Wei PengZhi-Chun Feng

Abstract

L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have a variety of symptoms, such as psychomotor developmental retardation, epilepsy, cerebral symptoms as well as increased concentrations of 2-hydroxyglutarate (2-HG) in the plasma, urine and cerebrospinal fluid. The causative gene of L-2-HGA is L-2-hydroxyglutarate dehydrogenase gene (L2HGDH), which consists of 10 exons. We presented a rare patient primary diagnosis of L-2-HGA based on the clinical symptoms, magnetic resonance imaging (MRI), and gas chromatography-mass spectrometry (GC-MS) results. Mutational analysis of the L2HGDH gene was performed on the L-2-HGA patient and his parents, which revealed two novel mutations in exon 3: a homozygous missense mutation (c.407 A > G, p.K136R) in both the maternal and paternal allele, and a heterozygous frameshift mutation [c.407 A > G, c.408 del G], (p.K136SfsX3) in the paternal allele. The mutation site p.K136R of the protein was located in the pocket of the FAD/NAD(P)-binding domain and predicted to be pathogenic. We predicted the homozygous missense mutation (c.407 A > G, p.K136R) was considered as the pathogenic mutation of the patient. ...Continue Reading

References

Jan 1, 1980·Journal of Inherited Metabolic Disease·M DuranS K Wadman
May 29, 2009·Radiology·Marjan E SteenwegMarjo S van der Knaap
Feb 22, 2012·Science·Daniel G MacArthurChris Tyler-Smith
Mar 7, 2012·Journal of Inherited Metabolic Disease·Martijn KranendijkCornelis Jakobs
Jan 22, 2013·Nature Chemical Biology·Carole L LinsterAndrew D Hanson
Apr 23, 2014·Annals of Indian Academy of Neurology·Padma BalajiDebasis Panigrahi
Feb 21, 2018·BMC Medical Genetics·Muhammad Ikram UllahBarry A Chioza

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Methods Mentioned

BETA
PCR
Exome Sequencing

Software Mentioned

Gene
PloyPhen
TASSER
SIFT
InterPro
MutationTaster
PyMol
Chromas

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