Journal
CLINICAL GENETICS
Volume 99, Issue 6, Pages 823-828Publisher
WILEY
DOI: 10.1111/cge.13941
Keywords
hydatidiform moles; imprinting disorders; infertility; KHDC3L; NLRP5; NLRP7; PADI6; SCMC
Categories
Funding
- Canadian Institute of Health Research [CCI-125687, MOP-130364]
- National Natural Science Foundation of China [81261120569, 81370729]
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This study identified functional variants in members of the subcortical maternal complex (SCMC) in some RHMs patients, particularly in NLRP7, NLRP5, and PADI6 genes. These abnormalities suggest a common oocyte origin of these conditions and highlight the continuous spectrum of abnormalities associated with deficiencies in the SCMC genes.
Recurrent hydatidiform moles (RHMs) are human pregnancies with abnormal embryonic development and hyperproliferating trophoblast. Biallelic mutations in NLRP7 and KHDC3L, members of the subcortical maternal complex (SCMC), explain the etiology of RHMs in only 60% of patients. Here we report the identification of seven functional variants in a recessive state in three SCMC members, five in NLRP7, one in NLRP5, and one in PADI6. In NLRP5, we report the first patient with RHMs and biallelic mutations. In PADI6, the patient had four molar pregnancies, two of which had fetuses with various abnormalities including placental mesenchymal dysplasia and intra-uterine growth restriction, which are features of Beckwith-Wiedemann syndrome and Silver Russell syndrome, respectively. Our findings corroborate recent studies and highlight the common oocyte origin of all these conditions and the continuous spectrum of abnormalities associated with deficiencies in the SCMC genes.
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