Humans ; Stroke ; MELAS Syndrome

OBJECTIVE: To explore the genetic etiology of a patient with mucopolysaccharidosis type II (MPSII). METHODS: The IDS gene of the proband and his mother was detected by Sanger sequencing, agarose gel electrophoresis, real-time PCR and multiple ligation-dependent probe amplification (MLPA). Prenatal diagnosis was performed on amniotic fluid sample. RESULTS: Agarose gel electrophoresis, real-time PCR, and MLPA all showed that exon 2 of IDS gene of the proband was deleted, for which his mother was normal. Prenatal diagnosis showed that the fetus was a normal male. CONCLUSION The de novo deletion of exon 2 of the IDS gene probably underlay the MPSII in this patient. Above finding has broadened the mutation spectrum of the IDS gene. The combined methods for the detection of IDS gene mutations could make accurate prenatal diagnosis for MPSII.
China ; Exons ; Female ; Humans ; Male ; Mucopolysaccharidosis II/genetics* ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis/methods*

11-beta-Hydroxysteroid Dehydrogenase Type 2/genetics* ; Humans ; Mineralocorticoid Excess Syndrome, Apparent/genetics* ; Pedigree

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with 5α-reductase type 2 deficiency. METHODS: Clinical data of the child was retrospectively analyzed. Targeted capture-next generation sequencing and Sanger sequencing were carried out to detect potential variants. RESULTS: The patient's main features included micropenis and hypospadia. He was found to harbor compound heterozygous c.680G>A (p.R227Q) and c.3G>T (p.M1I) variants of the SRD5A2 gene. Among these, c.680G>A (p.R227Q) was inherited from his father and was a known pathogenic mutation, while c.3G>T (p.M1I) was inherited from his mother and was unreported previously. CONCLUSION The compound heterozygous variants of the SRD5A2 gene probably underlay the disease in this child, who was eventually diagnosed with 5α-reductase 2 deficiency.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; Disorder of Sex Development, 46,XY ; Female ; Humans ; Hypospadias ; Male ; Membrane Proteins/genetics* ; Mutation ; Retrospective Studies ; Steroid Metabolism, Inborn Errors ; Steroids

Consensus ; Humans ; Mucopolysaccharidosis II/therapy*

BACKGROUND: The selection of anesthetic agents is important in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome patient because serious and unexpected complications can occur after anesthetic exposure.CASE: A 30-year-old man with MELAS syndrome and sepsis underwent colectomy. Propofol was administered by step-wise until target effect-site concentration (Ce) 1.0 µg/ml and stopped for the loss of consciousness and to avoid hemodynamic instability. After the loss of consciousness, total intravenous anesthesia (TIVA) using dexmedetomidine (1.0 µg/ml/h) and remifentanil (1–4 ng/ml of Ce) was performed for the maintenance of anesthesia to avoid malignant hyperthermia and mitochondrial dysfunction. During the surgery, the bispectral index score stayed between 26 and 44, and increased to 97 after the end of anesthesia.CONCLUSIONS: TIVA with dexmedetomidine and remifentanil as non-triggering anesthetic agents in patients with MELAS syndrome and systemic sepsis may have advantages to decrease damages associated with mitochondrial stress and metabolic burden.
Adult ; Anesthesia ; Anesthesia, Intravenous ; Anesthetics ; Colectomy ; Dexmedetomidine ; Hemodynamics ; Humans ; Malignant Hyperthermia ; MELAS Syndrome ; Propofol ; Sepsis ; Unconsciousness

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea
Age of Onset ; Blastomeres ; Dermatan Sulfate ; Diagnosis ; Embryonic Structures ; Female ; Heparitin Sulfate ; Humans ; Korea ; Lysosomal Storage Diseases ; Lysosomes ; Male ; Mucopolysaccharidoses ; Mucopolysaccharidosis II ; Multiplex Polymerase Chain Reaction ; Parturition ; Phenotype ; Polymerase Chain Reaction ; Preimplantation Diagnosis ; Prostaglandins D

OBJECTIVE: To delineate the clinical and genetic features of a Chinese boy suspected for Niemann-Pick disease type C. METHODS: The patient underwent clinical examination and was subjected to next generation sequencing. Suspected mutations were validated by Sanger sequencing. Potential impact of the novel mutation was predicted by SIFT, PolyPhen-2 and MutationTaster software. RESULTS: The child has featured hepatosplenomegaly, increased direct bilirubin, jaundiced skin and liver damage. DNA sequencing showed that he has carried compound heterozygous mutations of NPC1 gene, namely c.2728Gc.269C>G (p.P90R), which were inherited from his mother and father, respectively. The c.2728G>A (p.G910S) mutation was previously reported, while the c.269C>G (p.P90R) was a novel mutation. CONCLUSION The child has suffered from Niemann-Pick disease type C due to mutations of NPC1 gene. Above finding has enriched the spectrum of NPC1 mutations and provided a basis for genetic counseling and prenatal diagnosis.
Asian Continental Ancestry Group ; Bilirubin ; Carrier Proteins ; genetics ; Child ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Membrane Glycoproteins ; genetics ; Mutation ; Niemann-Pick Disease, Type C ; genetics

Adult ; DNA, Mitochondrial ; genetics ; Electroencephalography ; Humans ; MERRF Syndrome ; genetics ; Male ; Mitochondrial Myopathies ; genetics ; Mutation ; RNA, Transfer, Asn ; genetics

No abstract available.
Biopsy ; MELAS Syndrome