Diagnosis and counseling for a Chinese pedigree affected with autosomal recessive primary microcephaly 5 due to variants of ASPM gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 405-408, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-928429
ABSTRACT
OBJECTIVE@#To detect potential mutation of the ASPM gene in a Chinese pedigree affected with autosomal recessive primary microcephaly 5 (MCPH5).@*METHODS@#Peripheral venous blood samples were collected from the proband and her parents. Amniotic fluid sample was also collected upon her mother' s subsequent pregnancy. Following extraction of genomic DNA, PCR and Sanger sequencing were carried out to identify potential variants of the ASPM gene.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the ASPM gene, namely c.8214dupT (p.Q2739fs) in exon 18 and c.9541C>T (p.R3181X) in exon 23, which were respectively inherited from her father and mother. The fetus has found to have inherited the c.9541C>T (p.R3181X) variant only.@*CONCLUSION@#The c.8214dupT (p.Q2739fs) and c.9541C>T (p.R3181X) compound heterozygous variants of the ASPM gene probably underlay the pathogenesis of MCPH5 in this patient. Above finding has enabled genetic counseling and prenatal diagnosis for her family.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
China
/
Counseling
/
Microcephaly
/
Mutation
/
Nerve Tissue Proteins
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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