Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia

• Published in: Clinical genetics Vol. 80; no. 6; pp. 523 - 531
• Main Authors: Bennouna-Greene, V, Kremer, S, Stoetzel, C, Christmann, D, Schuster, C, Durand, M, Verloes, A, Sigaudy, S, Holder-Espinasse, M, Godet, J, Brandt, C, Marion, V, Danion, A, Dietemann, J-L, Dollfus, H
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.12.2011; Wiley-Blackwell; Wiley
• Subjects: Adolescent; ADP-Ribosylation Factors - genetics; ADP-Ribosylation Factors - metabolism; Adult; Bardet-Biedl Syndrome - genetics; Bardet-Biedl Syndrome - metabolism; Bardet-Biedl Syndrome - pathology; Biochemistry, Molecular Biology; Biological and medical sciences; bradyphrenia; Brain; Cellular Biology; Cilia - genetics; Cilia - pathology; Cognition Disorders - diagnosis; Cognition Disorders - pathology; Cognitive ability; Cohort Studies; Female; Fundamental and applied biological sciences. Psychology; Gene Expression; General aspects. Genetic counseling; Genetic disorders; Genetics of eukaryotes. Biological and molecular evolution; Group II Chaperonins - genetics; Group II Chaperonins - metabolism; hippocampal dysgenesis; Hippocampus - metabolism; Hippocampus - pathology; Humans; Life Sciences; Magnetic Resonance Imaging; Male; Medical genetics; Medical sciences; Memory; mental retardation; Metabolic diseases; Microtubule-Associated Proteins - genetics; Microtubule-Associated Proteins - metabolism; Middle Aged; Molecular and cellular biology; Nervous system; Neurogenesis; NMR; Nuclear magnetic resonance; Obesity; Phenotype; primary cilia; Proteins; RNA, Messenger - analysis; RNA, Messenger - genetics; Young Adult; Endocrinopathy; Human; Obesity; Laurence-Moon-Bardet-Biedl syndrome; Nervous system diseases; Diseases of the osteoarticular system; Nutrition disorder; Patient; Developmental disorder; Mental retardation; Complexes; Genetic disease; Genital diseases; Eye disease; Phenotype; bradyphreniaprimary cilia; Malformation; Intellectual deficiency; Genetics; hippocampal dysgenesis; Complex syndrome; Nutritional status; Hippocampus

Bennouna‐Greene V, Kremer S, Stoetzel C, Christmann D, Schuster C, Durand M, Verloes A, Sigaudy S, Holder‐Espinasse M, Godet J, Brandt C, Marion V, Danion A, Dietemann J‐L, Dollfus H. Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet–Biedl syndrome underline com...