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
6.The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS
Yonsei Medical Journal 2019;60(4):401-401
No abstract available.
Biopsy
;
MELAS Syndrome
7.Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS
Yonsei Medical Journal 2019;60(4):399-400
No abstract available.
Biopsy
;
MELAS Syndrome
8.The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
Min Seong BAEK ; Se Hoon KIM ; Young Mock LEE
Yonsei Medical Journal 2019;60(1):98-105
PURPOSE: The disease entity mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by an early onset of stroke-like episodes. MELAS is the most dominant subtype of mitochondrial disease. Molecular genetic testing is important in the diagnosis of MELAS. The mitochondrial DNA (mtDNA) 3243A>G mutation is found in 80% of MELAS patients. Nevertheless, molecular analysis alone may be insufficient to diagnose MELAS because of mtDNA heteroplasmy. This study aimed to evaluate whether muscle biopsy is useful in MELAS patients as an initial diagnostic evaluation method. MATERIALS AND METHODS: The medical records of patients who were diagnosed with MELAS at the Department of Pediatrics of Gangnam Severance Hospital between January 2006 and January 2017 were reviewed. The study population included 12 patients. They were divided into two subgroups according to whether the results of muscle pathology were in accordance with mitochondrial diseases. Clinical variables, diagnostic evaluations, and clinical outcomes were compared between the two groups. RESULTS: Of the 12 patients, seven were muscle pathology-positive for mitochondrial disease. No statistically significant difference in clinical data was observed between the groups that were muscle pathology-positive and muscle pathology-negative for mtDNA 3243A>G mutation. Additionally, the patients with weakness as the initial symptom were all muscle pathology-positive. CONCLUSION: The usefulness of muscle biopsy appears to be limited to an initial confirmative diagnostic evaluation of MELAS. Muscle biopsy can provide some information in MELAS patients with weakness not confirmed by genetic testing.
Biopsy*
;
Diagnosis
;
DNA, Mitochondrial
;
Genetic Testing
;
Humans
;
Medical Records
;
MELAS Syndrome*
;
Methods
;
Mitochondrial Diseases
;
Mitochondrial Encephalomyopathies*
;
Molecular Biology
;
Pathology
;
Pediatrics
Result Analysis
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