BBBG syndrome or opitz syndrome: New family

Verloes, Alain; Merrer, Martine Le; Briard, Marie-Louise

doi:10.1002/ajmg.1320340303

Cited by 24 publications

(10 citation statements)

References 29 publications

(20 reference statements)

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“…Patients negative for mutations in the MID1 gene show clinical manifestations comparable to those observed in patients in whom mutations have been found: suggestive facial appearance, which includes hypertelorism, and the presence of at least one additional midline defect, such as LTE abnormalities and hypospadias [Cox et al, 2000;So et al, 2005] (our unpublished results). A possible scenario is that the mutation in these patients resides in regulatory regions of the gene ultimately leading to an altered level of MID1 protein, like the original pericentric inversion involving the 5 0 of the gene that led to the discovery of the MID1 gene as responsible of the X-linked form of this disorder [Quaderi et al, 1997;Verloes et al, 1989]. In addition, some of the sporadic cases may represent autosomal dominant OS patients carrying mutations on chromosome 22.…”

Section: Mid1 Mutation Rate In Os Patients and Future Prospectsmentioning

confidence: 99%

MID1 mutations in patients with X-linked Opitz G/BBB syndrome

2008

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Communicated by Arnold MunnichMutations in the MID1 gene are responsible for the X-linked form of Opitz G/BBB syndrome (OS), a disorder that affects the development of midline structures. OS is characterized by hypertelorism, hypospadias, laryngotracheo-esophageal (LTE) abnormalities, and additional midline defects. Cardiac, anal, and neurological defects are also present. The expressivity of OS is highly variable, even within the same family. We reviewed all the MID1 mutations reported so far, in both familial and sporadic cases. The mutations are scattered along the entire length of the gene and consist of missense and nonsense mutations, insertions and deletions, either inframe or causing frameshifts, and deletions of either single exons or the entire MID1 coding region. The variety of described mutations and the lack of a strict genotype-phenotype correlation confirm the previous suggestion of the OS phenotype being caused by a loss-of-function mechanism. However, although a specific mutation cannot entirely account for the observed phenotype, we observed preferential association between some types of mutation and specific clinical manifestations, e.g., brain anatomical defects and truncating mutations. This may suggest that the pathogenetic mechanism underlying the OS phenotype is more complex and may vary among the affected organs. Hum Mutat 29(5), [584][585][586][587][588][589][590][591][592][593][594] 2008.

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Section: Mid1 Mutation Rate In Os Patients and Future Prospectsmentioning

confidence: 99%

MID1 mutations in patients with X-linked Opitz G/BBB syndrome

2008

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“…1,2 However, it is now widely recognized that the 2 original descriptions were variable presentations of a single entity. 3,4 The incidence of this condition remains unknown and is difficult to determine because of the marked variability in clinical presentation. This is highlighted by a number of reports where retrospective clinical evaluation and genetic testing have revealed multiple mutationpositive, mildly affected relatives of probands.…”

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confidence: 99%

“…5 A range of other craniomaxillofacial deformities has been reported in this condition and is shown in Table 1. 3 Previously, there have been few reports on the overall management and long-term follow-up. 6 -9 The aim in the present study was to review the clinical features in a cohort of patients with Opitz G BBB who are reaching skeletal maturity and evaluate the long-term results of surgical management.…”

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confidence: 99%

Multidisciplinary Management of Opitz G BBB Syndrome

Parashar¹,

Anderson

Cox³

et al. 2005

Annals of Plastic Surgery

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Opitz G BBB syndrome is a rare condition characterized by the 3 major anomalies of hypertelorism, cleft lip and palate, and hypospadias, although there may be other associated anomalies. The underlying genetic causes are complex and consist of both X-linked recessive and autosomal dominant forms of the disorder. Previously, there have been publications on the underlying genetics and case reports, but there have been few reports regarding the long-term outcome. The aim in this study was to review the range of clinical presentation and evaluate outcomes of the multidisciplinary management of a cohort of patients with Opitz G BBB syndrome. In a 25-year period, 7 patients with Opitz G BBB syndrome were managed by the Australian Craniofacial Unit (ACFU), 5 male and 2 female. Most of the patients are now reaching skeletal maturity. Each one presented with a range of severity in the triad of hypertelorism, cleft lip and palate, and hypospadias anomalies. The males all exhibited the triad of anomalies, while the females both had hypertelorism, only 1 had isolated cleft palate, and neither had any genitourinary anomalies. Each patient underwent multidisciplinary assessment to make a treatment plan for staged management of different anomalies. Plan for surgical corrections of facial anomalies were performed according to the unit's protocol management of both hypertelorism and cleft lip and palate, but the presence of these coexisting anomalies required adjustment of the standard protocol of management of cleft lip and palate. In conclusion, we recommend that patients with Opitz G BBB syndrome require careful evaluation, and management of the anomalies should be in a coordinated manner by a multidisciplinary team.

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“…Male-to-male transmission of BBB syndrome occurred in several families [Stoll et al, 1985;Tolmie et al, 1987;Wilson and Oliver, 19881. BBB and G phenotypes occurred simultaneously in families [Cappa et al, 1987;Opitz, 1987;Verloes et al, 1989;Allanson, 19881. Consequently, the two "syndromes" were lumped in a single entity, for which one of us suggested the name Opitz BBBG syndrome [Verloes et al, 19891.…”

Section: Discussionmentioning

confidence: 99%

Opitz GBBB syndrome: Chromosomal evidence of an X‐linked form

Verloes

David²,

Odent

et al. 1995

Am. J. Med. Genet.

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BBB syndrome and G syndrome were originally reported as distinct X-linked disorders. Clinical studies indicated that BBB and G syndromes were likely to represent variant expression of the same disorder, now referred to as "Opitz" GBBB syndrome. Several occurrences of male-to-male transmission in both syndromes led to the hypothesis that GBBB syndrome was a single autosomal dominant, sex influenced disorder, now tentatively mapped to 5p12-13. We report on a large pedigree in which GBBB syndrome appears to cosegregate with a pericentric inversion of the X chromosome inv(X)(p22.3q26). It indicates the possible existence of a true X-linked form of GBBB syndrome, which does not appear phenotypically different from its autosomal counterpart. The gene could map in the vicinity of the breakpoints, in Xp or Xq. The existence of two genes affecting a common pathogenetic pathway could explain the gender-dependent expressivity of GBBB phenotype.

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BBBG syndrome or opitz syndrome: New family

Cited by 24 publications

References 29 publications

MID1 mutations in patients with X-linked Opitz G/BBB syndrome

MID1 mutations in patients with X-linked Opitz G/BBB syndrome

Multidisciplinary Management of Opitz G BBB Syndrome

Opitz GBBB syndrome: Chromosomal evidence of an X‐linked form

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