Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole.
Recurrent hydatidiform mole (RHM) is defined by the occurrence of repeated molar pregnancies in affected women. Two genes, NLRP7 and KHDC3L, play a causal role in RHM and are responsible for 48-80% and 5% of cases, respectively. Here, we report the results of screening these two genes for mutations in one Iranian and one Indian patient with RHM. No mutations in NLRP7 were identified in the two patients. KHDC3L sequencing identified two novel protein-truncating mutations in a homozygous state, a 4-bp deletion, c.17_20delGGTT (p.Arg6Leufs*7), in the Iranian patient and a splice mutation, c.349+1G>A, that affects the invariant donor site at the junction of exon 2 and intron 2 in the Indian patient. To date, only four mutations in KHDC3L have been reported. The identification of two additional mutations provides further evidence for the important role of KHDC3L in the pathophysiology of RHM and increases the diversity of mutations described in Asian populations.
Department of Medical Genetics, Shiraz University of Medical Sciences , Shiraz, Iran.
Maryam
M
Rezaei
Department of Human Genetics, McGill University Health Centre Research Institute, Montreal, Quebec, Canada; Department of Obstetrics and Gynecology, McGill University Health Centre Research Institute, Montreal, Quebec, Canada.
Ngoc Minh Phuong
NM
Nguyen
Department of Obstetrics and Gynecology, School of Medicine, Shiraz University of Medical Sciences , Shiraz, Iran.
Leila
L
Foroughinia
Center of Medical Genetics, Sir Ganga Ram Hospital , Delhi, India.
Pratima
P
Dash
Department of Obstetrics and Gynecology, School of Medicine, Shiraz University of Medical Sciences , Shiraz, Iran.
Fatemeh
F
Ahmadpour
Center of Medical Genetics, Sir Ganga Ram Hospital , Delhi, India.
Ishwar Chandra
IC
Verma
Department of Human Genetics, McGill University Health Centre Research Institute, Montreal, Quebec, Canada; Department of Obstetrics and Gynecology, McGill University Health Centre Research Institute, Montreal, Quebec, Canada.
Rima
R
Slim
Department of Medical Genetics, Shiraz University of Medical Sciences , Shiraz, Iran.
Majid
M
Fardaei