Publication

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Novara, F., Rinaldi, B., Sisodiya, S. M., Coppola, A., Giglio, S., Stanzial, F., Benedicenti, F., Donaldson, A., Andrieux, J., Stapleton, R., Weber, A., Reho, P., van Ravenswaaij-Arts, C., Kerstjens-Frederikse, W. S., Vermeesch, J. R., Devriendt, K., Bacino, C. A., Delahaye, A., Maas, S. M., Iolascon, A. & Zuffardi, O. Jun-2017 In : European Journal of Human Genetics. 25, 6, p. 694-701 8 p.

Research output: Scientific - peer-reviewArticle

APA

Novara, F., Rinaldi, B., Sisodiya, S. M., Coppola, A., Giglio, S., Stanzial, F., ... Zuffardi, O. (2017). Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. European Journal of Human Genetics, 25(6), 694-701. DOI: 10.1038/ejhg.2017.49

Author

Novara, Francesca; Rinaldi, Berardo; Sisodiya, Sanjay M.; Coppola, Antonietta; Giglio, Sabrina; Stanzial, Franco; Benedicenti, Francesco; Donaldson, Alan; Andrieux, Joris; Stapleton, Rachel; Weber, Astrid; Reho, Paolo; van Ravenswaaij-Arts, Conny; Kerstjens-Frederikse, Wilhelmina S.; Vermeesch, Joris Robert; Devriendt, Koenraad; Bacino, Carlos A.; Delahaye, Andree; Maas, S. M.; Iolascon, Achille; Zuffardi, Orsetta / Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes : 12 new cases.

In: European Journal of Human Genetics, Vol. 25, No. 6, 06.2017, p. 694-701.

Research output: Scientific - peer-reviewArticle

Harvard

Novara, F, Rinaldi, B, Sisodiya, SM, Coppola, A, Giglio, S, Stanzial, F, Benedicenti, F, Donaldson, A, Andrieux, J, Stapleton, R, Weber, A, Reho, P, van Ravenswaaij-Arts, C, Kerstjens-Frederikse, WS, Vermeesch, JR, Devriendt, K, Bacino, CA, Delahaye, A, Maas, SM, Iolascon, A & Zuffardi, O 2017, 'Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases' European Journal of Human Genetics, vol 25, no. 6, pp. 694-701. DOI: 10.1038/ejhg.2017.49

Standard

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes : 12 new cases. / Novara, Francesca; Rinaldi, Berardo; Sisodiya, Sanjay M.; Coppola, Antonietta; Giglio, Sabrina; Stanzial, Franco; Benedicenti, Francesco; Donaldson, Alan; Andrieux, Joris; Stapleton, Rachel; Weber, Astrid; Reho, Paolo; van Ravenswaaij-Arts, Conny; Kerstjens-Frederikse, Wilhelmina S.; Vermeesch, Joris Robert; Devriendt, Koenraad; Bacino, Carlos A.; Delahaye, Andree; Maas, S. M.; Iolascon, Achille; Zuffardi, Orsetta.

In: European Journal of Human Genetics, Vol. 25, No. 6, 06.2017, p. 694-701.

Research output: Scientific - peer-reviewArticle

Vancouver

Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F et al. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. European Journal of Human Genetics. 2017 Jun;25(6):694-701. Available from, DOI: 10.1038/ejhg.2017.49


BibTeX

@article{5e51a7db994c49fca98931492791b79c,
title = "Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases",
abstract = "16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability. To assess whether the haploinsufficiency of ANKRD11-flanking genes, such as ZFPM1, CDH15 and ZNF778, contributed to either the severity of the neurological impairment or was associated with other clinical features, we collected 12 new cases with a 16q24.2q24.3 deletion (de novo in 11 cases), ranging from 343 kb to 2.3 Mb. In 11 of them, the deletion involved the ANKRD11 gene, whereas in 1 case only flanking genes upstream to it were deleted. By comparing the clinical and genetic features of our patients with those previously reported, we show that the severity of the neurological phenotype and the frequency of congenital heart defects characterize the deletions that, besides ANKRD11, contain ZFPM1, CDH15 and ZNF778 as well. Moreover, the presence of thrombocytopenia and astigmatism should be taken into account to distinguish between 16q24 microdeletion syndrome and KBG syndrome. The single patient not deleted for ANKRD11, whose phenotype is characterized by milder psychomotor delay, cardiac congenital malformation, thrombocytopenia and astigmatism, confirms all this data.",
keywords = "TRANSCRIPTION FACTOR GATA-1, INTELLECTUAL DISABILITY, ANKRD11 GENE, MUTATIONS, DELETION, PATIENT, PROTEIN, HEART, ERYTHROPOIESIS, COFACTOR",
author = "Francesca Novara and Berardo Rinaldi and Sisodiya, {Sanjay M.} and Antonietta Coppola and Sabrina Giglio and Franco Stanzial and Francesco Benedicenti and Alan Donaldson and Joris Andrieux and Rachel Stapleton and Astrid Weber and Paolo Reho and {van Ravenswaaij-Arts}, Conny and Kerstjens-Frederikse, {Wilhelmina S.} and Vermeesch, {Joris Robert} and Koenraad Devriendt and Bacino, {Carlos A.} and Andree Delahaye and Maas, {S. M.} and Achille Iolascon and Orsetta Zuffardi",
year = "2017",
month = "6",
doi = "10.1038/ejhg.2017.49",
volume = "25",
pages = "694--701",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "6",

}

RIS

TY - JOUR

T1 - Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes

T2 - European Journal of Human Genetics

AU - Novara,Francesca

AU - Rinaldi,Berardo

AU - Sisodiya,Sanjay M.

AU - Coppola,Antonietta

AU - Giglio,Sabrina

AU - Stanzial,Franco

AU - Benedicenti,Francesco

AU - Donaldson,Alan

AU - Andrieux,Joris

AU - Stapleton,Rachel

AU - Weber,Astrid

AU - Reho,Paolo

AU - van Ravenswaaij-Arts,Conny

AU - Kerstjens-Frederikse,Wilhelmina S.

AU - Vermeesch,Joris Robert

AU - Devriendt,Koenraad

AU - Bacino,Carlos A.

AU - Delahaye,Andree

AU - Maas,S. M.

AU - Iolascon,Achille

AU - Zuffardi,Orsetta

PY - 2017/6

Y1 - 2017/6

N2 - 16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability. To assess whether the haploinsufficiency of ANKRD11-flanking genes, such as ZFPM1, CDH15 and ZNF778, contributed to either the severity of the neurological impairment or was associated with other clinical features, we collected 12 new cases with a 16q24.2q24.3 deletion (de novo in 11 cases), ranging from 343 kb to 2.3 Mb. In 11 of them, the deletion involved the ANKRD11 gene, whereas in 1 case only flanking genes upstream to it were deleted. By comparing the clinical and genetic features of our patients with those previously reported, we show that the severity of the neurological phenotype and the frequency of congenital heart defects characterize the deletions that, besides ANKRD11, contain ZFPM1, CDH15 and ZNF778 as well. Moreover, the presence of thrombocytopenia and astigmatism should be taken into account to distinguish between 16q24 microdeletion syndrome and KBG syndrome. The single patient not deleted for ANKRD11, whose phenotype is characterized by milder psychomotor delay, cardiac congenital malformation, thrombocytopenia and astigmatism, confirms all this data.

AB - 16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability. To assess whether the haploinsufficiency of ANKRD11-flanking genes, such as ZFPM1, CDH15 and ZNF778, contributed to either the severity of the neurological impairment or was associated with other clinical features, we collected 12 new cases with a 16q24.2q24.3 deletion (de novo in 11 cases), ranging from 343 kb to 2.3 Mb. In 11 of them, the deletion involved the ANKRD11 gene, whereas in 1 case only flanking genes upstream to it were deleted. By comparing the clinical and genetic features of our patients with those previously reported, we show that the severity of the neurological phenotype and the frequency of congenital heart defects characterize the deletions that, besides ANKRD11, contain ZFPM1, CDH15 and ZNF778 as well. Moreover, the presence of thrombocytopenia and astigmatism should be taken into account to distinguish between 16q24 microdeletion syndrome and KBG syndrome. The single patient not deleted for ANKRD11, whose phenotype is characterized by milder psychomotor delay, cardiac congenital malformation, thrombocytopenia and astigmatism, confirms all this data.

KW - TRANSCRIPTION FACTOR GATA-1

KW - INTELLECTUAL DISABILITY

KW - ANKRD11 GENE

KW - MUTATIONS

KW - DELETION

KW - PATIENT

KW - PROTEIN

KW - HEART

KW - ERYTHROPOIESIS

KW - COFACTOR

U2 - 10.1038/ejhg.2017.49

DO - 10.1038/ejhg.2017.49

M3 - Article

VL - 25

SP - 694

EP - 701

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 6

ER -

ID: 42711785