2.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*
5.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.Niemann-Pick disease type C caused by NPC1 mutation in a case.
Guangye ZHANG ; Fengling YU ; Kaihui ZHANG ; Fu LI ; Yuqiang LYU ; Min GAO ; Zhongtao GAI ; Yi LIU
Chinese Journal of Medical Genetics 2019;36(5):480-483
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
10.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
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