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Bardet−Biedl Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Initial cases related to BBS were first reported by Laurence and Moon in 1866 from a family who presented a combined clinical picture of retinitis pigmentosa, obesity, and cognitive impairment with later development of paraparesis (so-called Laurence–Moon syndrome). In 1920, Bardet described the triad of obesity, polydactyly, and retinitis pigmentosa from another family, and in 1922, Biedl observed retinitis pigmentosa, polydactyly, obesity, hypogenitalism, and intellectual impairment in two siblings. These findings thus expanded the clinical spectrum of Laurence–Moon syndrome to polydactyly and hypogenitalism (i.e., Bardet–Biedl syndrome). Despite their obvious differences (i.e., progressive spastic paraparesis and distal muscle weakness in Laurence–Moon syndrome and polydactyly in BBS), these two overlapping phenotypes share common genetic background (both containing mutations in genes involved ciliary biogenesis and trafficking). The term Bardet–Biedl syndrome (BBS) is often used to describe both syndromes [4].
Etiologies of obesity
Published in G. Michael Steelman, Eric C. Westman, Obesity, 2016
To date, there have been several hundred different human obesity cases associated with single gene defects. Some examples include the following (72): Autosomal dominant—achondroplasia, Albright hereditary osteodystrophy, Angelman syndrome, insulin resistance syndromesAutosomal recessive—Alstrom–Hallgren, Cohen, and Fanconi–Bickel syndromesPleiotropic syndromes are clinical syndromes whereby obesity is one of the many constellations of symptoms. There have been approximately 30 of these Mendelian disorders categorized to date, with several of these mutations (if not all) affecting the central or peripheral pathways controlling weight (27).Prader–Willi syndrome—the most common (prevalence 1:25,000) and best characterized human obesity syndrome. Includes progressive obesity, reduced fetal activity, hypotonia at birth, short stature, mental retardation, behavioral abnormalities, hypogonadism, small hands and feet, and hyperphagia usually developing between 12 and 18 months (73).Bardet–Biedl syndrome—also known as Laurence–Moon syndrome (prevalence <1:100,000). Includes polydactyly, developmental delay, impaired vision, hypogonadism, central obesity, and renal abnormalities.Cohen syndrome—dysmorphic features, developmental delay, visual problems, and late childhood or adolescent truncal obesity.Borjeson–Forssman–Lehmann syndrome—mental retardation, obesity, and hypogonadism.Wilson–Turner syndrome—mental retardation, gynecomastia, and childhood onset obesity.
Oliver McFarlane syndrome and choroidal neovascularisation: a case report
Published in Ophthalmic Genetics, 2020
Aruni Kumari Makuloluwa, Rutika Dodeja, Michalis Georgiou, Jose Gonzalez-Martin, Richard Hagan, Savita Madhusudhan, Michel Michaelides
Sequence variants in the PNPLA6 gene have been shown to be the genetic cause of OMS(8). It is inherited in an autosomal recessive manner and carriers are asymptomatic with no discernible phenotype(8). Using whole exome sequencing, Hufnagel et al. showed compound heterozygous variants in PNPLA6 in six patients with OMS(8). PNPLA6 encodes the enzyme, neuropathy target esterase (NTE) that catalyses de-esterification of membrane phosphatidylcholine into fatty acids and glycerophosphocholine, therefore it is integral in maintaining membrane integrity(7). Dysfunction of this gene has also been implicated in other conditions, namely, Boucher- Neuhäuser syndrome, Gordon Holmes syndrome, Laurence Moon syndrome and Spastic paraplegia type 39(7).
Oliver McFarlane syndrome: two new cases and a review of the literature
Published in Ophthalmic Genetics, 2021
Kristian Lisbjerg, Mette K. G. Andersen, Mette Bertelsen, Agnes G. Brost, Frederik F. Buchvald, Rikke B. Jensen, Anne-Marie Bisgaard, Thomas Rosenberg, Zeynep Tümer, Line Kessel
Boucher-Meuhäuser syndrome is characterized by cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism (21,22). Laurence-Moon syndrome has historically been associated with the Bardet-Biedl syndrome spectrum, but patients do not have polydactyly or renal disease, the chorioretinal atrophy is more severe and they have hypopituitarism with short stature, hypogonadism and early neurological involvement (3). The congenital trichomegaly is only found in Oliver McFarlane syndrome and differs this syndrome from similar clinical entities.
Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS)
Published in Ophthalmic Genetics, 2020
Aramis B. Torrefranca, Alvina Pauline D. Santiago, Michelle D. Lingao, Marie Julianne C. Racoma
Genetically, BBS is the result of mutations in a primary ciliopathy gene family (5). The differential diagnoses include Alstrom syndrome, Senior Loken syndrome and Laurence-Moon syndrome. Confirmation of Bardet-Biedl syndrome diagnosis entails genetic decoding of a panel of genes of the probands and relatives. In the present study, we found mutations in BBS5. BBS5 (MIM 603650) is located at chromosome 2q31.1 and is composed of 12 exons. The protein coded by this gene is part of the BBSome complex (5).