1/3. Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by placental pathology (monochorionic diamniotic) and molecular studies with probability of dizygosity <1 x 10(-6). The affected twin has oral cavity abnormalities including median cleft lip, cleft palate, lobulated hamartomatous tongue, aberrant hyperplastic oral frenula, alveolar notches, and absent lateral incisors. Facial manifestations include telecanthus, hypoplastic alae nasi, and transient neonatal facial milia. The patient also has short and deviated fingers with partial cutaneous syndactyly. At 10 years, she has not had central nervous system or kidney problems. X-inactivation study revealed similar X-inactivation patterns in the lymphoblasts of both twins. We conclude that skewed X-inactivation is an unlikely cause for the discordance, which is more likely due to a postzygotic mutation in the affected twin.- - - - - - - - - - ranking = 1keywords = oral cavity, cavity (Clic here for more details about this article) |
2/3. Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant disease characterized by malformations of the face, oral cavity, and digits. Thus far, 18 small mutations in the OFD1 gene have been reported. Here, we describe, in one Japanese sporadic female OFD1 case, the presence of a novel pair of deletion mutations: a 4,094-bp deletion encompassing exon 7 to intron 9, and a 14-bp deletion in intron 9, both of which are present in her paternal X-chromosome. The first deletion, the largest known to affect OFD1, was revealed by identifying four novel transcripts that all lacked exons 7-9. The most likely cause of the double deletion is two unequal recombinations between homologous sequences. Identification of the 4,094-bp deletion was made possible only by analyzing OFD1 mRNA, underscoring the utility of mRNA analysis in the mutational analysis of OFD1.- - - - - - - - - - ranking = 1keywords = oral cavity, cavity (Clic here for more details about this article) |
3/3. Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome?Congenital malformations involving the face, oral cavity, and digits are the main findings in the oro-facio-digital (OFD) syndromes. Various eye anomalies and central nervous system involvement have also been reported in this condition. Here we report on a Brazilian boy with features belonging to the clinical spectrum of the OFD syndromes. He also had additional findings of periventricular nodular heterotopia (PVNH), asymmetric limb involvement, and microphthalmia. This unusual pattern of anomalies has not been reported previously and appears to be unique.- - - - - - - - - - ranking = 1keywords = oral cavity, cavity (Clic here for more details about this article) |