-
Je něco špatně v tomto záznamu ?
Natural history of KBG syndrome in a large European cohort
L. Loberti, LP. Bruno, S. Granata, G. Doddato, S. Resciniti, F. Fava, M. Carullo, E. Rahikkala, G. Jouret, LA. Menke, D. Lederer, P. Vrielynck, L. Ryba, N. Brunetti-Pierri, A. Lasa-Aranzasti, AM. Cueto-González, L. Trujillano, I. Valenzuela, EF....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články
NLK
Free Medical Journals
od 1996 do Před 1 rokem
Open Access Digital Library
od 1996-01-01
PubMed
35861666
DOI
10.1093/hmg/ddac167
Knihovny.cz E-zdroje
- MeSH
- abnormality zubů * genetika MeSH
- Evropané MeSH
- faciální stigmatizace MeSH
- fenotyp MeSH
- lidé MeSH
- mentální retardace * genetika diagnóza MeSH
- mnohočetné abnormality * genetika diagnóza MeSH
- nanismus * genetika MeSH
- represorové proteiny genetika MeSH
- srovnávací genomová hybridizace MeSH
- těhotenství MeSH
- vývojové onemocnění kostí * genetika MeSH
- Check Tag
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context of a European collaborative study, we collected the largest cohort of KBGS patients (49). A combined array- based Comparative Genomic Hybridization and next generation sequencing (NGS) approach investigated both genomic Copy Number Variants and SNVs. Intellectual disability (ID) (82%) ranged from mild to moderate with severe ID identified in two patients. Epilepsy was present in 26.5%. Short stature was consistent over time, while occipitofrontal circumference (median value: -0.88 SD at birth) normalized over years. Cerebral anomalies, were identified in 56% of patients and thus represented the second most relevant clinical feature reinforcing clinical suspicion in the paediatric age when short stature and vertebral/dental anomalies are vague. Macrodontia, oligodontia and dental agenesis (53%) were almost as frequent as skeletal anomalies, such as brachydactyly, short fifth finger, fifth finger clinodactyly, pectus excavatum/carinatum, delayed bone age. In 28.5% of individuals, prenatal ultrasound anomalies were reported. Except for three splicing variants, leading to a premature termination, variants were almost all frameshift. Our results, broadening the spectrum of KBGS phenotype progression, provide useful tools to facilitate differential diagnosis and improve clinical management. We suggest to consider a wider range of dental anomalies before excluding diagnosis and to perform a careful odontoiatric/ear-nose-throat (ENT) evaluation in order to look for even submucosal palate cleft given the high percentage of palate abnormalities. NGS approaches, following evidence of antenatal ultrasound anomalies, should include ANKRD11.
Area of Clinical and Molecular Genetics Vall d'Hebron University Hospital Barcellona 08035 Spain
Centre de Génétique Humaine Gosselies 6041 Belgium
Centre for Neurological Diseases West Tallinn Central Hospital Tallinn 10617 Estonia
Department of Child Neurology Turku University Hospital Turku 20500 Finland
Department of Clinical and Experimental Medicine University of Pisa Pisa 56122 Italy
Department of Genomics and Clinical Genetics Turku University Hospital Turku 20500 Finland
Department of Molecular and Medical Genetics Tbilisi State Medical University Tbilisi 0162 Georgia
Department of Translational Medicine University of Naples Federico 2 Naples 80125 Italy
Division of Child and Adolescent Neuropsychiatry University of Siena Siena 53100 Italy
Genetic Counseling Service Department of Pediatrics Regional Hospital of Bolzano Bolzano 39100 Italy
Genetica Medica Azienda Ospedaliera Universitaria Senese Siena 53100 Italy
Institut de Pathologie et de Génétique
Institute for Maternal and Child Health Trieste 34100 Italy
Institute of Clinical Medicine University of Tartu Tartu 50406 Estonia
IRCCS Stella Maris Foundation Department of Developmental Neuroscience Pisa 98125 Italy
Medical Genetics University of Siena Siena 53100 Italy
National Center of Genetics L 3555 Dudelange Luxembourg
Regional Coordinating Center for Rare Diseases Udine 33100 Italy
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc22032153
- 003
- CZ-PrNML
- 005
- 20230216100623.0
- 007
- ta
- 008
- 230120s2022 enk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1093/hmg/ddac167 $2 doi
- 035 __
- $a (PubMed)35861666
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a enk
- 100 1_
- $a Loberti, Lorenzo $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy $u Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy
- 245 10
- $a Natural history of KBG syndrome in a large European cohort / $c L. Loberti, LP. Bruno, S. Granata, G. Doddato, S. Resciniti, F. Fava, M. Carullo, E. Rahikkala, G. Jouret, LA. Menke, D. Lederer, P. Vrielynck, L. Ryba, N. Brunetti-Pierri, A. Lasa-Aranzasti, AM. Cueto-González, L. Trujillano, I. Valenzuela, EF. Tizzano, AM. Spinelli, I. Bruno, A. Currò, F. Stanzial, F. Benedicenti, D. Lopergolo, FM. Santorelli, C. Aristidou, GA. Tanteles, I. Maystadt, T. Tkemaladze, T. Reimand, H. Lokke, K. Õunap, MK. Haanpää, A. Holubová, V. Zoubková, M. Schwarz, R. Žordania, K. Muru, L. Roht, A. Tihveräinen, R. Teek, U. Thomson, I. Atallah, A. Superti-Furga, S. Buoni, R. Canitano, V. Scandurra, A. Rossetti, S. Grosso, R. Battini, M. Baldassarri, MA. Mencarelli, CL. Rizzo, M. Bruttini, F. Mari, F. Ariani, A. Renieri, AM. Pinto
- 520 9_
- $a KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context of a European collaborative study, we collected the largest cohort of KBGS patients (49). A combined array- based Comparative Genomic Hybridization and next generation sequencing (NGS) approach investigated both genomic Copy Number Variants and SNVs. Intellectual disability (ID) (82%) ranged from mild to moderate with severe ID identified in two patients. Epilepsy was present in 26.5%. Short stature was consistent over time, while occipitofrontal circumference (median value: -0.88 SD at birth) normalized over years. Cerebral anomalies, were identified in 56% of patients and thus represented the second most relevant clinical feature reinforcing clinical suspicion in the paediatric age when short stature and vertebral/dental anomalies are vague. Macrodontia, oligodontia and dental agenesis (53%) were almost as frequent as skeletal anomalies, such as brachydactyly, short fifth finger, fifth finger clinodactyly, pectus excavatum/carinatum, delayed bone age. In 28.5% of individuals, prenatal ultrasound anomalies were reported. Except for three splicing variants, leading to a premature termination, variants were almost all frameshift. Our results, broadening the spectrum of KBGS phenotype progression, provide useful tools to facilitate differential diagnosis and improve clinical management. We suggest to consider a wider range of dental anomalies before excluding diagnosis and to perform a careful odontoiatric/ear-nose-throat (ENT) evaluation in order to look for even submucosal palate cleft given the high percentage of palate abnormalities. NGS approaches, following evidence of antenatal ultrasound anomalies, should include ANKRD11.
- 650 _2
- $a těhotenství $7 D011247
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a faciální stigmatizace $7 D019066
- 650 12
- $a abnormality zubů $x genetika $7 D014071
- 650 12
- $a vývojové onemocnění kostí $x genetika $7 D001848
- 650 12
- $a mnohočetné abnormality $x genetika $x diagnóza $7 D000015
- 650 12
- $a mentální retardace $x genetika $x diagnóza $7 D008607
- 650 _2
- $a srovnávací genomová hybridizace $7 D055028
- 650 _2
- $a represorové proteiny $x genetika $7 D012097
- 650 _2
- $a fenotyp $7 D010641
- 650 12
- $a nanismus $x genetika $7 D004392
- 650 _7
- $a Evropané $7 D000094854 $2 czmesh
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Bruno, Lucia Pia $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy
- 700 1_
- $a Granata, Stefania $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy $u Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy
- 700 1_
- $a Doddato, Gabriella $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy
- 700 1_
- $a Resciniti, Sara $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy
- 700 1_
- $a Fava, Francesca $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy $u Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy
- 700 1_
- $a Carullo, Michele $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy
- 700 1_
- $a Rahikkala, Elisa $u Department of Clinical Genetics, PEDEGO Research Unit, and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu 90014, Finland
- 700 1_
- $a Jouret, Guillaume $u National Center of Genetics (NCG), Laboratoire national de santé (LNS), L-3555 Dudelange, Luxembourg
- 700 1_
- $a Menke, Leonie A $u Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Amsterdam 1100, The Netherlands
- 700 1_
- $a Lederer, Damien $u Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium
- 700 1_
- $a Vrielynck, Pascal $u William Lennox Neurological Hospital, Reference Center for Refractory Epilepsy UCLouvain, Ottignies 1340, Belgium
- 700 1_
- $a Ryba, Lukáš $u Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic
- 700 1_
- $a Brunetti-Pierri, Nicola $u Department of Translational Medicine, University of Naples "Federico II", Naples 80125, Italy $1 https://orcid.org/0000000268958819
- 700 1_
- $a Lasa-Aranzasti, Amaia $u Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain
- 700 1_
- $a Cueto-González, Anna Maria $u Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain
- 700 1_
- $a Trujillano, Laura $u Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain
- 700 1_
- $a Valenzuela, Irene $u Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain
- 700 1_
- $a Tizzano, Eduardo F $u Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain
- 700 1_
- $a Spinelli, Alessandro Mauro $u Regional Coordinating Center for Rare Diseases, Udine 33100, Italy $1 https://orcid.org/0000000319028209
- 700 1_
- $a Bruno, Irene $u Institute for Maternal and Child Health, Trieste 34100, Italy
- 700 1_
- $a Currò, Aurora $u Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy
- 700 1_
- $a Stanzial, Franco $u Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy
- 700 1_
- $a Benedicenti, Francesco $u Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy
- 700 1_
- $a Lopergolo, Diego $u IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy $1 https://orcid.org/0000000322560482
- 700 1_
- $a Santorelli, Filippo Maria $u IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy
- 700 1_
- $a Aristidou, Constantia $u Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus
- 700 1_
- $a Tanteles, George A $u Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus
- 700 1_
- $a Maystadt, Isabelle $u Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium
- 700 1_
- $a Tkemaladze, Tinatin $u Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi 0162, Georgia
- 700 1_
- $a Reimand, Tiia $u Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia $u Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia
- 700 1_
- $a Lokke, Helen $u Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia $u Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia
- 700 1_
- $a Õunap, Katrin $u Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia $u Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia
- 700 1_
- $a Haanpää, Maria K $u Department of Genomics and Clinical Genetics, Turku University Hospital, Turku 20500, Finland
- 700 1_
- $a Holubová, Andrea $u Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic
- 700 1_
- $a Zoubková, Veronika $u Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic
- 700 1_
- $a Schwarz, Martin $u Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic
- 700 1_
- $a Žordania, Riina $u Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia
- 700 1_
- $a Muru, Kai $u Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia $u Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia
- 700 1_
- $a Roht, Laura $u Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia $u Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia
- 700 1_
- $a Tihveräinen, Annika $u Department of Child Neurology, Turku University Hospital, Turku 20500, Finland
- 700 1_
- $a Teek, Rita $u Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia
- 700 1_
- $a Thomson, Ulvi $u Centre for Neurological Diseases, West-Tallinn Central Hospital, Tallinn 10617, Estonia
- 700 1_
- $a Atallah, Isis $u Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland
- 700 1_
- $a Superti-Furga, Andrea $u Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland
- 700 1_
- $a Buoni, Sabrina $u Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy
- 700 1_
- $a Canitano, Roberto $u Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy
- 700 1_
- $a Scandurra, Valeria $u Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy
- 700 1_
- $a Rossetti, Annalisa $u Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy
- 700 1_
- $a Grosso, Salvatore $u Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy
- 700 1_
- $a Battini, Roberta $u IRCCS Stella Maris Foundation, Department of Developmental Neuroscience, Pisa 98125, Italy $u Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56122, Italy
- 700 1_
- $a Baldassarri, Margherita $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy
- 700 1_
- $a Mencarelli, Maria Antonietta $u Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy
- 700 1_
- $a Rizzo, Caterina Lo $u Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy
- 700 1_
- $a Bruttini, Mirella $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy $u Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy
- 700 1_
- $a Mari, Francesca $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy $u Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy
- 700 1_
- $a Ariani, Francesca $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy $u Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy
- 700 1_
- $a Renieri, Alessandra $u Medical Genetics, University of Siena, Siena 53100, Italy $u Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy $u Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy $1 https://orcid.org/0000000208469220
- 700 1_
- $a Pinto, Anna Maria $u Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy
- 773 0_
- $w MED00002077 $t Human molecular genetics $x 1460-2083 $g Roč. 31, č. 24 (2022), s. 4131-4142
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/35861666 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20230120 $b ABA008
- 991 __
- $a 20230216100616 $b ABA008
- 999 __
- $a ok $b bmc $g 1891118 $s 1183488
- BAS __
- $a 3
- BAS __
- $a PreBMC-MEDLINE
- BMC __
- $a 2022 $b 31 $c 24 $d 4131-4142 $e 2022Dec16 $i 1460-2083 $m Human molecular genetics $n Hum Mol Genet $x MED00002077
- LZP __
- $a Pubmed-20230120
