A familial case of recurrent hydatidiform mole with p.Asp108Ilefs∗30 causing mutation in KHDC3L: A genetic and clinical report.
Familial hydatidiform mole
Gestational trophoblastic disease
KHDC3L
Journal
Taiwanese journal of obstetrics & gynecology
ISSN: 1875-6263
Titre abrégé: Taiwan J Obstet Gynecol
Pays: China (Republic : 1949- )
ID NLM: 101213819
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
accepted:
12
07
2021
entrez:
1
4
2022
pubmed:
2
4
2022
medline:
5
4
2022
Statut:
ppublish
Résumé
Hydatidiform mole (HM) is defined by trophoblastic proliferation and vesicular enlargement of placental villi in which, KHDC3L gene plays a causal role. This report presents a clinical review and genetic screening for p.Asp108Ilefs∗30 mutation in KHDC3L gene in an affected woman with a previous history of HM and three siblings with a history of HM. Pathological examination of molar pregnancy in proband confirmed a typical complete HM (CHM). Also, DNA extraction was done, polymerase chain reaction was carried out and then sequencing was performed by the Sanger sequencing method. The screened mutation was found in all three sisters in a homozygous state. Egg donation is suggested for having viable children in these patients with the lowest risk of inadvertent damage.
Identifiants
pubmed: 35361411
pii: S1028-4559(22)00038-9
doi: 10.1016/j.tjog.2022.02.038
pii:
doi:
Substances chimiques
KHDC3L protein, human
0
Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
395-398Informations de copyright
Copyright © 2022. Published by Elsevier B.V.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors do not have any conflict of interest.