Débats listesnof sommaire
Syndrome de Laurence-Moon-Bardet-Biedl
Quelqu'un pourrait-il me donner quelques renseignements ou références sur le "syndrome de Bardet-Bied", dont seul le nom ne m'est pas inconnu...
Sans grande honte, mais avec quelque envie de progrès...
Très cordialement à vous.
Laurence - Moon - Bardet - Biedl : Dégénérescence rétinienne (ressemble à rétinopathie pigmentaire), polydactylie, obésité, retard mental, hypogonadisme (ça vaut mieux), dysplasie rénale et court sur pattes. Récessif, pas encore complètement localisé car plurigénétique.
Un conseil : http://www.healthgate.com/HealthGate/home.html et prendre Medline; ça ira plus vite et c'est gratos !!
Yannick LE MER
S'agit-il du "Laurence Moon ( +Bardet pour les français ?) Biedl ?
Syndrome polymalformatif +hypogonadisme+retard mental + rétinopathie pigmentaire +strabisme +colobome uvee +...Transmission variable ?
A mon avis ça doit être dans le rapport de la SFO de l'an dernier enattendant des avis plus autorisés que le mien
Il s'agit de plusieurs syndromes assez proches qui donnent le plus souvent une atteinte visuelle de type dystrophie mixte cone-batonnet. Un bilan électrophysiologique rétinien, une angio, une vision des couleurs, un champ visuel goldmann sont indispensables pour affirme le diagnostic et surtout le pronostic (mais pas toujours possibles chez l'enfant).
Voici quelques lignes extraites d'un topo de Bernard PUECH beaucoup trop modeste sur cette liste mais à mon avis l'un des meilleurs ophtalmologiste spécialisés dans ces syndromes rares et difficiles.
1) Bardet-Biedl (syndrome de). Autosomique récessif. MIM*209900 pour la forme 2 et 209901 pour la forme 1, Autosomique récessif". Syndrome caractérisé par une polydactylie, une rétinite pigmentaire, un retard mental, une obésité et un hypogonadisme. La polydactylie est postaxiale et peut être réduite à un bourgeon, la syndactylie est également fréquente. La rétinite pigmentaire est atypique puisque accompagnée d'un nystagmus et sans pigment au début alors que l'ERG est déjà très altéré, son évolution est sévère puisqu'elle abouti à la cécité. Le retard mental est assez marqué. Il existe une dystrophie adiposo-génitale avec hypogénitalisme et parfois selle turcique vide. Le rein peut être multikistique avec des diverticules caliciels. Le locus a été localisé en 16q21. Il a été localisé trois loci pour le syndrome de Bardet Biedl en 16q21, en 11q 13 et en 15q22.En 1925 Solis Cohen et Weiss (1925) ont sugéré de réunir Laurence-Moon et Bardet-Biedl, en 1982, Schatchat et Maumenee (1982) ont revu la nosographie de ces syndromes et les ont à nouveau séparés. Le syndrome de Laurence Moon présente une PARAPLEGIE, n'a pas de polydactylie et d'obésité. Le syndrome de Bardet Biedl présente des anomalies rénales trés fréquentes et une fibrose hépatique.2"
Syn BBS, syndrome opto-rétino-gonado-digital, BBS1, BBS2."
3) Laurence Moon (syndrome de) MIM*245800 Autosomique récessif Retard mental, rétinite pigmentaire, hypogénitalisme, ataxie, paraplégie spastique Débute vers 5 ou 6 ans, retard mental discret, hypogonadisme, ataxie, paraplégie spastique et épilepsie possible. La rétinite pigmentaire est de type poivre et sel. L'hypogonadisme est d'origine centrale avec taux de FSH et de LH souvent bas absence de réponse de l'hypophyse à la Gn RH hypothalamique et concentration de testostérone et d'oestradiol basses. L'hormone de croissance est également basse.
Syn. syndrome opto-rétino-gonadique. Laurence J.Z. et Moon R.C. 1866
Voir E.M.C. Ophtalmologie 21470 A 50, Les syndromes oculo-auditifs, page 12
Voir également Laurence-Moon-Bardet-Biedl.
Marc Abitbol avait fait une remarquable mise au point sur ces syndromes. Pourrait-il nous la redonner? ou notre webmaster?
*209900 BARDET-BIEDL SYNDROME,
This condition is characterized by mental retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism, and has incorrectly been called LMBB (Laurence-Moon-Bardet-Biedl) syndrome. Ammann (1970) pointed out that these features were present in the patients of Biedl (1922) and Bardet (1920), but that the patients of Laurence and Moon had a distinct disorder with paraplegia and without polydactyly and obesity (see Laurence-Moon syndrome, 245800).
As indicated by Ammann's study, residual heterogeneity may exist even after the Laurence-Moon syndrome is separated.
Clearly Biemond syndrome II (210350; iris coloboma, hypogenitalism, obesity, polydactyly and mental retardation) is distinct, as is Alstrom syndrome (203800; retinitis pigmentosa, obesity, diabetes mellitus and perceptive deafness). Schachat and Maumenee (1982) reviewed the nosography of these and related syndromes. Renal abnormalities appear to have a high frequency in the Bardet-Biedl syndrome (Alton and McDonald, 1973). Klein (1978) observed 57 cases of Bardet-Biedl syndrome in Switzerland. Fifteen affected individuals occurred in one inbred pedigree and 7 in a second. Pagon et al. (1982) reported a 2-year-old boy with the Bardet-Biedl syndrome (retinal dystrophy, polydactyly, mental retardation, and mild obesity) who died of renal failure and was found to have hepatic fibrosis. They reviewed both earlier reported cases and other autosomal recessive entities that combine retinal dystrophy, hepatic fibrosis and nephronophthisis. Harnett et al. (1988) evaluated 20 of 30 patients with Bardet-Biedl syndrome identified from ophthalmologic records in Newfoundland. All had some abnormality in renal structure, function, or both. Most had minor functional abnormalities and a characteristic radiologic appearance, but to date (the mean age was 31 years) only 3 of the 20 had end-stage renal disease, with 2 requiring maintenance hemodialysis. Half the subjects had hypertension. Calyceal clubbing or blunting was evident in 18 of 19 patients studied by intravenous pyelography; 13 had calyceal cysts or diverticula. Of the 19 patients, 17 had lobulated renal outlines of the fetal type.
Farag and Teebi (1988) concluded that the frequency of both the Bardet-Biedl and the Laurence-Moon syndromes is increased in the Arab population of Kuwait. Farag and Teebi (1989) pointed to a high frequency of the Bardet-Biedl syndrome among the Bedouin; the estimated minimum prevalence was 1 in 13,500. Green et al. (1989) examined 32 patients with Bardet-Biedl syndrome for some or all of the cardinal manifestations of the disorder. Of 28 patients examined, all had severe retinal dystrophy, but only 2 had typical retinitis pigmentosa. Polydactyly was present in 18 of 31 patients; syndactyly, brachydactyly, or both were present in all patients. Obesity was present in all but 1 of 25 patients. Only 13 of 32 patients were considered mentally retarded. Scores on verbal subsets of intelligence were usually lower than scores on performance tasks. Of 8 men, 7 had small testes and genitalia, which was not due to hypogonadotropism. All 12 women studied had menstrual irregularities and 3 had low serum estrogen levels (1 of these had hypogonadotropism and 2 had primary gonadal failure). Diabetes mellitus was present in 9 of 20 patients. Renal structural or functional abnormalities were present in all 21 patients studied, and 3 patients had end-stage renal failure. On the basis of a study of 75 relatives in 5 generations of the extended family of 2 adult Bardet-Biedl sibs, Croft and Swift (1990) suggested that heterozygotes have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease. They pointed out that homozygotes have hepatic disease. Gershoni-Baruch et al. (1992) emphasized the occurrence of cystic kidney dysplasia in Bardet-Biedl syndrome. They commented on the fact that the combination of cystic kidney dysplasia and polydactyly occurs also in Meckel syndrome (249000) and in the short rib-polydactyly syndromes (e.g., 263530) and that usually these syndromes are easy to differentiate. They observed 3 sibs with cystic kidney dysplasia and polydactyly who were thought to have Meckel syndrome until extinguished responses on electroretinography were detected in one of them, aged 3.5 years. In 19-year-old female twins and their 22-year-old sister, Chang et al. (1981) described hypogonadotropic hypogonadism with primary amenorrhea and lack of secondary sexual development, associated with retinitis pigmentosa.
Kwitek-Black et al. (1993) performed linkage studies in a large inbred Bedouin family from the Negev region of Israel. All 9 affected persons had polydactyly and pigmented retinopathy. Linkage and the candidate gene approach were used to exclude all known autosomal pigmented retinopathy loci. Thereafter, a genome-wide search for linkage was conducted using short tandem repeat polymorphisms (STRPs). By this approach, they identified linkage of the BBS locus to markers that mapped to 16q21. Maximum likelihood calculations for 2-point linkage between D16S408 and the disease phenotype resulted in Z = 4.2 at theta = 0.0. A multilocus lod score of 5.3 was observed. By demonstrating homozygosity in all affected individuals for the same allele of marker D16S408, further support for linkage was found, and the utility of homozygosity mapping using inbred families was demonstrated. In a second family with BBS from a different Bedouin tribe and unrelated to the first family, linkage to the same chromosome 16 markers was excluded over a stretch of at least 20 cM centered on marker D16S408. The symbol BBS2 was used for the locus on chromosome 16 and BBS1 (209901) to for non-chromosome 16 locus (McAlpine, 1994).
Stoler et al. (1995) described 2 unrelated girls with Bardet-Biedl syndrome who also had vaginal atresia. A similar association was suggested in reports of 11 BBS females who had structural genital abnormalities (some of which were missed in childhood), including persistent urogenital sinus; ectopic urethra; hypoplasia of the uterus, ovaries, and fallopian tubes; uterus duplex; and septate vagina. Mehrotra et al. (1997) observed 2 sisters with the Bardet-Biedl syndrome, 1 of whom had congenital hydrometrocolpos. This infant also had tetramelic postaxial polydactyly, making the diagnosis of Kaufman-McKusick syndrome (236700) a possibility in the neonatal period. However, as a teenager she was evaluated for poor vision and found to have mental deficiency, obesity, poor visual acuity, end gaze nystagmus, tapetoretinal degeneration, and extinguished electroretinogram. Her older sister had similar eye complaints; she likewise was born with tetramelic postaxial polydactyly and was also mentally retarded.
In Bedouin families in the Negev region of Israel, presumably the same kindreds as those studied by Kwitek-Black et al. (1993), Elbedour et al. (1994) performed echocardiographic evaluations of cardiac involvement in BBS. They stated that they found cardiac involvement in 50% of cases, justifying inclusion of echocardiographic examination in the clinical evaluation and follow-up of these patients. However, their table 1 gives echocardiographic abnormality in only 7 of 22 cases and these included 1 case of bicuspid aortic valve, 1 case of mild thickening of the interventricular septum, 1 case of 'moderate tricuspid regurgitation,' and 1 case of mild pulmonic valve stenosis. The occurrence of renal abnormality in 11 of the 22 patients on kidney ultrasonography was somewhat more impressive than the cardiac involvement.
Islek et al. (1996) described a boy with postaxial polydactyly and Hirschsprung disease (142623) found at the age of 3 months. Follow-up examination at the age of 7 years showed obesity, mental retardation, retinitis pigmentosa, microphallus, and cryptorchidism. The diagnosis of Bardet-Biedl syndrome was established. According to Islek et al. (1996), 2 other cases of association of Bardet-Biedl syndrome and Hirschsprung disease have been reported.
Croft et al. (1995) studied obesity and hypertension among on homozygous relatives of BBS patients, hypothesizing that BBS heterozygotes might be predisposed to these conditions. Among 34 parents of BBS homozygotes (obligate heterozygotes), a proportion of severely overweight fathers (26.7%) were significantly higher than that in comparably aged U.S. white males (8.9%). They concluded that the BBS gene may predispose male heterozygotes to obesity. If heterozygotes represent 1% of the general population, they estimated that approximately 2.9% of all severely overweight white males carry a single BBS gene. The BBS parents of both sexes were also significantly taller than U.S. white men and women of comparable age.
Carmi et al. (1995) compared the clinical manifestations of BBS in 3 unrelated, extended Arab-Bedouin kindreds in which linkage had been demonstrated to chromosome 3 (BBS3; 600151), 15 (BBS4; 600374), and chromosome 16 (BBS2). Observed differences included the limb distribution of the postaxial polydactyly and the extent and age-association of obesity. It appeared that the chromosome 3 locus is associated with polydactyly of all 4 limbs, while polydactyly of the chromosome 15 type is mostly confined to the hands. On the other hand, the chromosome 15 type is associated with early-onset morbid obesity, while the chromosome 16 type appears to present the 'leanest' end of BBS. Future cloning of the various BBS genes should contribute to the understanding of the molecular basis of limb development and to the identification of human obesity-related genes.
In a study of 19 BBS families of mixed but predominantly European ethnic origin, Bruford et al. (1997) obtained results showing that an estimated 36 to 56% of the families were linked to 11q13. A further 32 to 35% of the families were linked to 15q22.3-q23. Three consanguineous families showed homozygosity for 3 adjacent chromosome 15 markers, consistent with identity by descent for this region. In one of these families haplotype analysis reported a localization for BBS4 between D15S131 and D15S114, a distance of about 2 cM. Weak evidence of linkage to 16q21 was observed in 24 to 27% of families. A fourth group of families, estimated at 8%, were unlinked to all 3 of the above loci. Bruford et al. (1997) found no evidence of linkage to markers on chromosome 3, corresponding to the BBS3 locus, or on chromosome 2 or 17, arguing against the involvement of a BBS locus in a patient with Bardet-Biedl syndrome and a t(2;17) translocation reported by Dallapiccola (1971).
Bell (1958) ; Chanmugam et al. (1977) ; Ciccarelli and Vesell (1961) ; Haning et al. (1980) ; Kalbian (1956) ; Solis-Cohen and Weiss (1924) ; Toledo et al. (1977)
View Clinical Synopsis Entry
Il y a actuellement au moins 4 locus de Syndrome de BARDET BIEDL sur les chromosomes 3, 11, 15 et 16
Quant au syndrome de LAURENCE- MOON
The features in the 4 sibs reported by Laurence and Moon (1866) and later by Hutchinson (1882, 1900) were mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia. The disorder is distinct from that described by Bardet and Biedl (see Bardet-Biedl syndrome, 209900). Unfortunately, until recently, most authors adopted the designation suggested by Solis-Cohen and Weiss (1925), Laurence-Moon-Biedl-Bardet syndrome. Schachat and Maumenee (1982) reviewed the nosography of these and related syndromes. The Laurence-Moon syndrome (strictu sensu) is the same as the disorder reported by Kapuscinski (1934). The family reported by Bowen et al. (1965) probably had this syndrome. Whitaker et al. (1987) studied the pituitary gland in the autopsy tissues of a 17-year-old patient who, according to their estimation, had the Laurence-Moon syndrome. The same patient, however, was reported by Kearns and Sayre (1958) as 1 of 2 cases with an unusual syndrome which has subsequently come to be called Kearns-Sayre syndrome (530000). For what it is worth, Whitaker et al. (1987) found by morphologic and immunocytochemical studies no abnormality of the pituitary to account for the hypogonadism that the patient showed. Farag and Teebi (1988) concluded that both the Bardet-Biedl and the Laurence-Moon syndromes are increased in the Arab population of Kuwait.
On peut directement consulter la bible des généticiens q'est le McKUSIK dénommée aussi base de données OMIM
sur le site du
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