Pregnancy, childbirth and the puerperium
Autosomal dominant
1q24.2
Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614389.1 | Lebanon | Unknown | Recurrent spontaneous abortion Recurrent spontaneous abortion  | NM_005957.4:c.665C>T, NM_000130.4:c.1601G>A, NM_000506.4:c.*97G>A | Heterozygous, Homozygous | Autosomal, Dominant | Hoteit et al. 2012 | |||
| 614389.2.1 | Lebanon | Female | Yes | No | Recurrent spontaneous abortion; Hyper... Recurrent spontaneous abortion; Hypercholesterolemia; Deep venous thrombosis | NM_005957.4:c.665C>T, NM_000130.4:c.1601G>A, NM_000506.4:c.*97G>A | Heterozygous | Autosomal, Dominant | Khalife and Tadmouri, 2020 | Index patient |
| 614389.2.2 | Lebanon | Female | Recurrent spontaneous abortion; Hyp... Recurrent spontaneous abortion; Hypercholesterolemia | NM_005957.4:c.665C>T, NM_000130.4:c.1601G>A, NM_000506.4:c.*97G>A | Heterozygous | Autosomal, Dominant | Khalife and Tadmouri, 2020 | Mother of the index ... | ||
| 614389.2.3 | Lebanon | Female | Yes | No | Recurrent spontaneous abortion Recurrent spontaneous abortion | NM_005957.4:c.665C>T, NM_000130.4:c.1601G>A | Heterozygous | Autosomal, Dominant | Khalife and Tadmouri, 2020 | Sister of the index ... |
| 614389.G.1.1 | Bahrain | No | Miscarriage Miscarriage | NG_007462.1:g.3959T>C | Autosomal, Dominant | Finan et al. 2010 | 36 heterozygotes and... | |||
| 614389.G.1.3 | Bahrain | No | Miscarriage Miscarriage | NG_007462.1:g.4127C>A | Heterozygous | Autosomal, Dominant | Finan et al. 2010 | Study of 204 patient... | ||
| 614389.G.1.5 | Bahrain | No | Miscarriage Miscarriage | NG_007462.1:g.4133C>T | Autosomal, Dominant | Finan et al. 2010 | 34 heterozygotes and... | |||
| 614389.G.1.7 | Bahrain | No | Miscarriage Miscarriage | NG_007462.1:g.4614G>A | Autosomal, Dominant | Finan et al. 2010 | 20 heterozygotes and... | |||
| 614389.G.1.9 | Bahrain | No | Miscarriage Miscarriage | NM_000594.3:c.-488G>A | Autosomal, Dominant | Finan et al. 2010 | 32 heterozygotes and... | |||
| 614389.G.1.11 | Bahrain | No | Miscarriage Miscarriage | NG_007462.1:g.4752G>A | Autosomal, Dominant | Finan et al. 2010 | 52 heterozygotes and... | |||
| 614389.G.2.1 | Lebanon | Unknown | Recurrent spontaneous abortion Recurrent spontaneous abortion | NM_005957.4:c.665C>T, NM_000130.4:c.1601G>A, NM_000506.4:c.*97G>A | Heterozygous | Autosomal, Dominant | Hoteit et al. 2012 | 2 patients | ||
| 614389.G.2.2 | Lebanon | Unknown | Recurrent spontaneous abortion Recurrent spontaneous abortion | NM_005957.4:c.665C>T, NM_000130.4:c.1601G>A, NM_000506.4:c.*97G>A | Heterozygous, Homozygous | Autosomal, Dominant | Hoteit et al. 2012 | 2 patients | ||
| 614389.G.3.1 | Lebanon | Female | Recurrent spontaneous abortion Recurrent spontaneous abortion | NM_000506.4:c.*97G>A | Autosomal, Dominant | Finan et al. 2002 | 110 patients; 7 homo... |
Elshafaay et al. (2008) studied 1000 couples with a history of Recurrent Pregnancy Loss (RPL). Cytogenetic studies identified only 44 patients with chromosomal abnormalities. Of the remaining patients, a sub-group of 100 female patients were tested for the presence of factor V Leiden mutation. The results showed that the prevalence of Factor V Leiden was significantly higher (10% vs. 2%) in the patients than in the control cases (100 females without any history of RPL).
Aimagambetova et al. 2019 conducted a retrospective study, which compared HLA-DPB1, HLA-DQB1, and HLA-DRB1 alleles and DPB1-DQB1-DRB1 haplotypes of 93 Lebanese women with idiopathic recurrent pregnancy loss (RPL) to a control group of 113 Lebanese women with two or more successful pregnancies, and no miscarriages. Allele frequencies of DRB1*04:01:01 and DRB1*08:01:01 were significantly higher in RPL cases than in control women. However, DRB1*07:01:01, DPB1*04:01:01, and DRB1*14:01:01 allele were observed to have significantly lower frequencies in women with RPL than in control women. Haplotype analysis revealed positive association of RPL with DPB1*04:01:01-DQB1*03:02:01-DRB1*04:01:01, whereas DPB1*04:01:01-DQB1*02:01:01-DRB1*07:01:01 was observed in lower frequencies among RPL cases suggesting an RPL-protective nature.