3.Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with mucopolysaccharidosis type II due to deletion of exon 2 of IDS gene.
Ganye ZHAO ; Chen CHEN ; Xuechao ZHAO ; Lina LIU ; Conghui WANG ; Xiangdong KONG
Chinese Journal of Medical Genetics 2022;39(8):864-867
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*
4.Identification of a novel variant of SRD5A2 gene in a child featuring steroid 5α-reductase type 2 deficiency.
Mali LI ; Fengyu CHE ; Shichao QIU ; Zhihua WANG
Chinese Journal of Medical Genetics 2021;38(12):1233-1236
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
9.White matter connection's damage, not cortical activation, leading to language dysfunction of mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes.
Na YE ; Jing-Yi LIU ; Xi-Ping GONG ; Hui QU ; Ke-Hui DONG ; Yan-Ling MA ; Wei-Li JIA ; Zhao-Zhao WANG ; Yuan-Jun LI ; Yu-Mei ZHANG
Chinese Medical Journal 2019;132(5):597-599
10.Dexmedetomidine as a non-triggering anesthetic agent in a patient with MELAS syndrome and systemic sepsis: A case report
Sang Hun KIM ; Su Yeong PARK ; Ki Tae JUNG
Anesthesia and Pain Medicine 2019;14(4):416-422
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
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Anesthesia
;
Anesthesia, Intravenous
;
Anesthetics
;
Colectomy
;
Dexmedetomidine
;
Hemodynamics
;
Humans
;
Malignant Hyperthermia
;
MELAS Syndrome
;
Propofol
;
Sepsis
;
Unconsciousness
Result Analysis
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