Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Lieber, Daniel S ^a,b,c   Hershman, Steven G ^a,b,c   Slate, Nancy G ^a   Calvo, Sarah E ^a,b,c   Sims, Katherine B ^a   Schmahmann, Jeremy D ^a   Mootha, Vamsi K ^a,b,c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

Ataxia; CNV; Copy number variants; D bifunctional protein deficiency; DBP; Exome sequencing; HSD17B4; Human genetics; Mendelian disorders; Mitochondria; Mitochondrial disease; Mitochondrial disorders; Multi system disorders; Next generation sequencing; Peroxisomal defects; Perrault syndrome

Indexed keywords

CITRATE SYNTHASE; DOCOSAHEXAENOIC ACID; FOLLITROPIN; HSD17B4 PROTEIN; LACTIC ACID; MITOCHONDRIAL DNA; PEROXISOMAL BIFUNCTIONAL ENZYME; PHYTANIC ACID; TESTOSTERONE; UBIDECARENONE; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID; ACYLCARNITINE; ARACHIDONIC ACID; CARBOXYLIC ACID; CARNITINE; LONG CHAIN FATTY ACID; HSD17B4 PROTEIN, HUMAN; PEROXISOMAL MULTIFUNCTIONAL PROTEIN 2;

ADULT; ARTICLE; ATAXIA; ATAXIC GAIT; BLOOD ANALYSIS; BRAIN SIZE; CASE REPORT; CEREBELLAR ATAXIA; COMPLEX I DEFICIENCY; COPY NUMBER VARIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; EXON; FATTY ACID METABOLISM; FATTY ACID OXIDATION; GENE SEQUENCE; GENETIC SCREENING; HSD17B4 PROTEIN DEFICIENCY; HUMAN; HUMAN TISSUE; INDEL MUTATION; LACTATE BLOOD LEVEL; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; NEUROLOGIC EXAMINATION; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PROTEIN DEFICIENCY; SPEECH INTELLIGIBILITY; URINALYSIS; WORD RECOGNITION; ALGORITHM; AZOOSPERMIA; CEREBELLUM ATROPHY; COGNITIVE DEFECT; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; GENOTYPE; HETEROZYGOTE; HSD17B4 DEFICIENCY; NEUROLOGIC GAIT DISORDER; PEDIGREE; PERRAULT SYNDROME; PHENOTYPIC VARIATION; RESPIRATORY CHAIN; RETROSPECTIVE STUDY; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; DNA SEQUENCE; ENZYMOLOGY; GENE DELETION; GENE DOSAGE; GENETICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE;

ABNORMALITIES, MULTIPLE; ADULT; ATAXIA; AZOOSPERMIA; BASE SEQUENCE; DNA COPY NUMBER VARIATIONS; GENE DOSAGE; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MITOCHONDRIAL DISEASES; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR SEQUENCE DATA; PEROXISOMAL MULTIFUNCTIONAL PROTEIN-2; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84899475824     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-30     Document Type: Article

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