Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Depienne, Christel (author): University of Strasbourg

Nava, Caroline (author): Paris-Sorbonne University

Keren, Boris (author): Paris-Sorbonne University

Heide, Solveig (author): Pitié-Salpêtrière University Hospital

Rastetter, Agnès (author): Paris-Sorbonne University

Passemard, Sandrine (author): Paris Diderot University

Chantot-Bastaraud, Sandra (author): Hôpital Armand Trousseau

Moutard, Marie Laure (author): Paris-Sorbonne University

Agrawal, Pankaj B. (author): Harvard University

VanNoy, Grace (author): Harvard University

Stoler, Joan M. (author)

Amor, David J (author)

Billette de Villemeur, Thierry (author)

Doummar, Diane (author)

Alby, Caroline (author)

Cormier-Daire, Valérie (author)

Garel, Catherine (author)

Marzin, Pauline (author)

Scheidecker, Sophie (author)

de Saint-Martin, Anne (author)

Hirsch, Edouard (author)

Korff, Christian (author)

Bottani, Armand (author)

Faivre, Laurence (author)

Verloes, Alain (author)

Orzechowski, Christine (author)

Burglen, Lydie (author)

Leheup, Bruno (author)

Roume, Joelle (author)

Andrieux, Joris (author)

Sheth, Frenny (author)

Datar, Chaitanya (author)

Parker, Michael J. (author)

Pasquier, Laurent (author)

Odent, Sylvie (author)

Naudion, Sophie (author)

Delrue, Marie Ange (author)

Le Caignec, Cédric (author)

Vincent, Marie (author)

Isidor, Bertrand (author)

Renaldo, Florence (author)

Stewart, Fiona (author)

Toutain, Annick (author)

Koehler, Udo (author)

Häckl, Birgit (author)

von Stülpnagel, Celina (author)

Kluger, Gerhard (author)

Møller, Rikke S. (author)

Jonson, Tord (author): Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Skåne University Hospital

Soller, Maria (author): Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Skåne University Hospital

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2017-03-10
2017
English 17 s.
In: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 136:4, s. 463-479

Related links:: http://dx.doi.org/10... (free); show more...; https://link.springe...; https://lup.lub.lu.s...; https://doi.org/10.1...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with ZBTB18 mutations and seven with HNRNPU mutations, and review additional data from 37 previously published patients with 1q43q44 microdeletions. We compare clinical data of patients with 1q43q44 microdeletions with those of patients with point mutations in HNRNPU and ZBTB18 to assess the contribution of each gene as well as the possibility of epistasis between genes. Our study demonstrates that AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance. ZBTB18 may also contribute to microcephaly and HNRNPU to thin corpus callosum, but with a lower penetrance. Co-deletion of contiguous genes has additive effects. Our results confirm and refine the complex genotype-phenotype correlations existing in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of AKT3, ZBTB18 and HNRNPU in humans.

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By the author/editor: Depienne, Christ ...; Nava, Caroline; Keren, Boris; Heide, Solveig; Rastetter, Agnès; Passemard, Sandr ...; show more...; Chantot-Bastarau ...; Moutard, Marie L ...; Agrawal, Pankaj ...; VanNoy, Grace; Stoler, Joan M.; Amor, David J; Billette de Vill ...; Doummar, Diane; Alby, Caroline; Cormier-Daire, V ...; Garel, Catherine; Marzin, Pauline; Scheidecker, Sop ...; de Saint-Martin, ...; Hirsch, Edouard; Korff, Christian; Bottani, Armand; Faivre, Laurence; Verloes, Alain; Orzechowski, Chr ...; Burglen, Lydie; Leheup, Bruno; Roume, Joelle; Andrieux, Joris; Sheth, Frenny; Datar, Chaitanya; Parker, Michael ...; Pasquier, Lauren ...; Odent, Sylvie; Naudion, Sophie; Delrue, Marie An ...; Le Caignec, Cédr ...; Vincent, Marie; Isidor, Bertrand; Renaldo, Florenc ...; Stewart, Fiona; Toutain, Annick; Koehler, Udo; Häckl, Birgit; von Stülpnagel, ...; Kluger, Gerhard; Møller, Rikke S.; Jonson, Tord; Soller, Maria; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

Articles in the publication: Human Genetics

By the university: Lund University

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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

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