Table 1.
Clinical Characteristics of Subjects with Mutations in RARB
|
Family A |
Family B |
Family C |
Family D |
||||
|---|---|---|---|---|---|---|---|
| II-1 | II-4 | II-5 | II-6 | II-3 | II-1 | II-1 | |
| Ethnicity | French Canadian and English | French | African (Angola [father] and Congo [mother]) | French | |||
| Consanguinity | − | − | − | − | − | − | − |
| Mutation(s) | NA | c.355C>T (p.Arg119∗) and c.1201_1202insCT (p.Ile403Serfs∗15) | c.355C>T (p. Arg119∗) and c.1201_1202insCT (p.Ile403Serfs∗15) | NA | c.1159 > A (p.Arg387Ser)a | c.1159C>T (p.Arg387Cys)a | c.1159C>T (p.Arg387Cys)a |
| Gender | male | female | male | male | male | male | female |
| Age (age at death) | (few hours; 34 weeks of gestation)b | (few hours; 38 weeks of gestation) | (21-week-old fetus)c | (few hours; term) | 16 years | (34-week-old fetus)c | (few hours; 39 weeks of gestation) |
| Bilateral A/M | + | + | + | + | + | unilateral (left) microphthalmia; normal right eye | bilateral microphthalmia |
| Pulmonary hypoplasia | NA | + | + | NA | − | left lung with one hypoplastic lobe; normal right lung | bilateral (predominant on the left side) |
| Diaphragmatic hernia | NA | + | + | + | + | + (left) | + (left) |
| Cardiac abnormality | NA | + | − | NA | − | − | − |
| Intellectual disability | NA | NA | NA | NA | + | NA | NA |
| Other | − | cleft palate, dysmorphisms, small spleen, bicornate and small uterus | dysmorphisms, unfixed malrotated bowel | dysmorphisms | − | malrotated bowel, right cryptorchydy, mild IUGR (weight and length), and OFC at the fifth percentile | bicornate uterus |
Abbreviations are as follows: NA, not available; IUGR, intrauterine growth restriction; and OFC, occipitofrontal circumference.
a
De novo mutation.
b
Died shortly after birth at 34 weeks as a result of a presumed tangled cord, although a diagnosis of PDAC was strongly suspected.
c
Terminated pregnancy.