Congenital cataract, microphthalmia and septal heart defect in two generations

WILKIE, A. O. M.; Taylor, Denise; Scambler, Peter; Baraitser, M

doi:10.1097/00019605-199304000-00003

Cited by 33 publications

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“…In two male patients with cuspid gigantism [Wilkie and Chambers, 1990;Marashi and Gorlin, 1990] the syndrome has not been diagnosed convincingly. X-linked dominant inheritance seems to be most likely as mother to daughter transmission has been reported [Wilkie et al, 1993]. In support of this hypothesis, our three patients showing OFCD syndrome are females too.…”

Section: Discussionsupporting

confidence: 84%

“…A combination of congenital cataract, dental root gigantism, characteristic facial findings, and cardiac anomalies was reported by different authors (Table I) [Hayward, 1980;Wilkie and Chambers, 1990;Gorlin, 1990, 1992;Wilkie et al, 1993;Aalfs et al, 1996], and the condition was summarized by the term oculo-facio-cardio-dental syndrome [Gorlin et al, 1996]. Until now, OFCD syndrome was only confirmed in female patients.…”

Section: Discussionmentioning

confidence: 94%

“…The patient was reexamined in detail by Gorlin et al [1996]. Up to now, only five additional cases have been described [Wilkie and Chambers, 1990;Wilkie et al, 1993;Aalfs et al, 1996]. Referring to the most frequent symptoms, Gorlin et al [1996] designated the condition as oculofacio-cardio-dental (OFCD) syndrome: O refers to ocular anomalies such as congenital cataract, secondary glaucoma and microphthalmia; F refers to typical facial appearance such as narrow face, high nasal bridge, broadening of the nasal tip with separated cartilages, cleft palate or submucous cleft palate; C refers to cardiac anomalies such as atrial septal defect (ASD), ventricular septal defect (VSD); and D refers to dental characteristics such as radiculomegaly of canines, oligodontia, delayed dentition, and retained deciduous teeth.…”

Section: Introductionmentioning

confidence: 99%

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Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients

et al. 1999

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Oculo-facio-cardio-dental syndrome is a very rare condition. So far, only nine cases have been documented. We report on three additional female patients representing the same entity. The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, ventricular septal defect, and skeletal anomalies. The following dental abnormalities were found: radiculomegaly, delayed dentition, oligodontia, root dilacerations (extension), and malocclusion. For the first time, fusion of teeth and hyperdontia of permanent upper teeth were seen. In addition, structural and morphological dental changes were noted. These findings expand the clinical spectrum of the syndrome.

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Section: Discussionsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 94%

Section: Introductionmentioning

confidence: 99%

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Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients

et al. 1999

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“…OFCD [6][7][8][9][10] is a distinct form of syndromic microphthalmia with congenital cataracts, narrow face, broad nasal tip with separated cartilage, cleft palate, and cardiac and dental anomalies (canine radiculomegaly, root dilacerations, oligodontia and retained deciduous teeth; Fig. 2).…”

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confidence: 99%

“…5 Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. 6 Genetics of Development and Disease Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA. 7 Genetics Division, Children's National Medical Center, Washington, DC, USA.…”

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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

et al. 2004

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Lenz microphthalmia is inherited in an X-linked recessive pattern and comprises microphthalmia, mental retardation, and skeletal and other anomalies. Two loci associated with this syndrome, MAA (microphthalmia with associated anomalies) and MAA2, are situated respectively at Xq27-q28 (refs. 1,2) and Xp11.4-p21.2 (ref. 3). We identified a substitution, nt 254C→T; P85L, in BCOR (encoding BCL-6-interacting corepressor, BCOR 4 ) in affected males from the family with Lenz syndrome previously used to identify the MAA2 locus 3 . Oculofaciocardiodental syndrome (OFCD; OMIM 300166) is inherited in an X-linked dominant pattern with presumed male lethality and comprises microphthalmia, congenital cataracts, radiculomegaly, and cardiac and digital abnormalities. Given their phenotypic overlap, we proposed that OFCD and MAA2-associated Lenz microphthalmia were allelic, and we found different frameshift, deletion and nonsense mutations in BCOR in seven families affected with OFCD. Like wild-type BCOR, BCOR P85L and an OFCDmutant form of BCOR can interact with BCL-6 and efficiently repress transcription. This indicates that these syndromes are likely to result from defects in alternative functions of BCOR, such as interactions with transcriptional partners other than BCL-6. We cloned the zebrafish (Danio rerio) ortholog of BCOR and found that knock-down of this ortholog caused developmental perturbations of the eye, skeleton and central nervous system consistent with the human syndromes, confirming that BCOR is a key transcriptional regulator during early embryogenesis.We had previously localized MAA2 to a 10-Mb candidate region of Xp 3 . To identify the gene, we narrowed this region by excluding regions deleted in males with Xp deletions but without microphthalmia. Coriell cell line GM07947 is from a male with Duchenne muscular dystrophy, chronic granulomatous disease, McLeod phenotype and retinitis pigmentosa without microphthalmia 5 . Sequence-tagged site (STS) mapping confirmed previous data and oriented it to current genome maps. The deletion extended from DMD (telomeric) to between RPGR and OTC (centromeric; Fig. 1). The Coriell cell line GM10283 excluded two genes telomeric to DMD. This narrowed the critical region to ∼5 Mb, including 12 identified genes not known to be mutated in humans. One of these, DDX3, has an active Y homolog, and we therefore considered it unlikely to underlie a disorder with X-linked recessive inheritance. We sequenced the remaining 11 genes in members of the family in which MAA2 was originally identified. Ten of these genes showed no alterations, but we identified a missense change (nt 254C→T) in BCOR 4 that co-segregated with the disease phenotype (lod score of 2.46, above the threshold of 2.0 for X linkage 3 ). The corresponding residue of human BCOR, Pro85, is conserved in mouse, rat, chicken and pufferfish (Fig. 2), and we did not detect the nt 254C→T mutation among >450 control chromosomes. X-inactivation studies of peripheral blood leukocytes in two carriers of the mutation showed no ske...

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Oculo-facio-cardio-dental (OFCD) syndrome

Gorlin

Marashi

Obwegeser³

1996

Am. J. Med. Genet.

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Oculo‐facio‐cardio‐dental syndrome consists of (1) eye anomalies: congenital cataract and microphthalmia, or secondary glaucoma, (2) facial abnormalities: (long narrow face), high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate, (3) cardiac anomalies: atrial septal defect (ASD), ventricular septal defect (VSD), or floppy mitral valve; and (4) dental abnormalities: canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length. Other less common findings are: sensorineural hearing loss, septate vagina, and syndactyly of toes 2–3. Inheritance may be an X‐linked dominant trait, lethal in the male. © 1996 Wiley‐Liss, Inc.

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Congenital cataract, microphthalmia and septal heart defect in two generations

Cited by 33 publications

References 0 publications

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

Oculo-facio-cardio-dental (OFCD) syndrome

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