title: Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
abstract: Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological features. The condition is genetically heterogeneous, and eight genes (BBS1-BBS8) have been identified to date. A mutation of the BBS1 gene on chromosome 11q13 is observed in 30%-40% of BBS cases. In addition, a complex triallelic inheritance has been established in this disorder--that is, in some families, three mutations at two BBS loci are necessary for the disease to be expressed. The clinical features of BBS that can be observed at birth are polydactyly, kidney anomaly, hepatic fibrosis, and genital and heart malformations. Interestingly, polydactyly, cystic kidneys, and liver anomalies (hepatic fibrosis with bile-duct proliferation) are also observed in Meckel syndrome, along with occipital encephalocele. Therefore, we decided to sequence the eight BBS genes in a series of 13 antenatal cases presenting with cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele. These fetuses were mostly diagnosed as having Meckel or "Meckel-like" syndrome. In six cases, we identified a recessive mutation in a BBS gene (three in BBS2, two in BBS4, and one in BBS6). We found a heterozygous BBS6 mutation in three additional cases. No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series. These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome.
authors.affiliation: Département de Génétique et Unité INSERM U-393, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
authors.forename: Houda
authors.initials: H
authors.lastname: Karmous-Benailly
authors.forename: Jelena
authors.initials: J
authors.lastname: Martinovic
authors.forename: Marie-Claire
authors.initials: MC
authors.lastname: Gubler
authors.forename: Yoann
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authors.lastname: Sirot
authors.forename: Laure
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authors.lastname: Clech
authors.forename: Catherine
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authors.lastname: Ozilou
authors.forename: Joëlle
authors.initials: J
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authors.forename: Nora
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authors.forename: Heather
authors.initials: H
authors.lastname: Etchevers
authors.forename: Eric
authors.initials: E
authors.lastname: Detrait
authors.forename: Chantal
authors.initials: C
authors.lastname: Esculpavit
authors.forename: Sophie
authors.initials: S
authors.lastname: Audollent
authors.forename: Géraldine
authors.initials: G
authors.lastname: Goudefroye
authors.forename: Marie
authors.initials: M
authors.lastname: Gonzales
authors.forename: Julia
authors.initials: J
authors.lastname: Tantau
authors.forename: Philippe
authors.initials: P
authors.lastname: Loget
authors.forename: Madeleine
authors.initials: M
authors.lastname: Joubert
authors.forename: Dominique
authors.initials: D
authors.lastname: Gaillard
authors.forename: Corinne
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authors.lastname: Jeanne-Pasquier
authors.forename: Anne-Lise
authors.initials: AL
authors.lastname: Delezoide
authors.forename: Marie-Odile
authors.initials: MO
authors.lastname: Peter
authors.forename: Ghislaine
authors.initials: G
authors.lastname: Plessis
authors.forename: Brigitte
authors.initials: B
authors.lastname: Simon-Bouy
authors.forename: Hélène
authors.initials: H
authors.lastname: Dollfus
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Férechté
authors.initials: F
authors.lastname: Encha-Razavi
authors.forename: Michel
authors.initials: M
authors.lastname: Vekemans
authors.forename: Tania
authors.initials: T
authors.lastname: Attié-Bitach
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D020788:Bardet-Biedl Syndrome / Q000175:diagnosis* / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004677:Encephalocele / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005333:Fetus / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008099:Liver / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome