Eintrag weiter verarbeiten
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
Gespeichert in:
| Zeitschriftentitel: | European Journal of Human Genetics |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| In: | European Journal of Human Genetics, 26, 2018, 1, S. 64-74 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Springer Science and Business Media LLC
|
| Schlagwörter: |
| author_facet |
Moortgat, Stéphanie Berland, Siren Aukrust, Ingvild Maystadt, Isabelle Baker, Laura Benoit, Valerie Caro-Llopis, Alfonso Cooper, Nicola S. Debray, François-Guillaume Faivre, Laurence Gardeitchik, Thatjana Haukanes, Bjørn I. Houge, Gunnar Kivuva, Emma Martinez, Francisco Mehta, Sarju G. Nassogne, Marie-Cécile Powell-Hamilton, Nina Pfundt, Rolph Rosello, Monica Prescott, Trine Vasudevan, Pradeep van Loon, Barbara Verellen-Dumoulin, Christine Verloes, Alain Lippe, Charlotte von der Wakeling, Emma Wilkie, Andrew O. M. Wilson, Louise Yuen, Amy Study, DDD Low, Karen J. Newbury-Ecob, Ruth A. Moortgat, Stéphanie Berland, Siren Aukrust, Ingvild Maystadt, Isabelle Baker, Laura Benoit, Valerie Caro-Llopis, Alfonso Cooper, Nicola S. Debray, François-Guillaume Faivre, Laurence Gardeitchik, Thatjana Haukanes, Bjørn I. Houge, Gunnar Kivuva, Emma Martinez, Francisco Mehta, Sarju G. Nassogne, Marie-Cécile Powell-Hamilton, Nina Pfundt, Rolph Rosello, Monica Prescott, Trine Vasudevan, Pradeep van Loon, Barbara Verellen-Dumoulin, Christine Verloes, Alain Lippe, Charlotte von der Wakeling, Emma Wilkie, Andrew O. M. Wilson, Louise Yuen, Amy Study, DDD Low, Karen J. Newbury-Ecob, Ruth A. |
|---|---|
| author |
Moortgat, Stéphanie Berland, Siren Aukrust, Ingvild Maystadt, Isabelle Baker, Laura Benoit, Valerie Caro-Llopis, Alfonso Cooper, Nicola S. Debray, François-Guillaume Faivre, Laurence Gardeitchik, Thatjana Haukanes, Bjørn I. Houge, Gunnar Kivuva, Emma Martinez, Francisco Mehta, Sarju G. Nassogne, Marie-Cécile Powell-Hamilton, Nina Pfundt, Rolph Rosello, Monica Prescott, Trine Vasudevan, Pradeep van Loon, Barbara Verellen-Dumoulin, Christine Verloes, Alain Lippe, Charlotte von der Wakeling, Emma Wilkie, Andrew O. M. Wilson, Louise Yuen, Amy Study, DDD Low, Karen J. Newbury-Ecob, Ruth A. |
| spellingShingle |
Moortgat, Stéphanie Berland, Siren Aukrust, Ingvild Maystadt, Isabelle Baker, Laura Benoit, Valerie Caro-Llopis, Alfonso Cooper, Nicola S. Debray, François-Guillaume Faivre, Laurence Gardeitchik, Thatjana Haukanes, Bjørn I. Houge, Gunnar Kivuva, Emma Martinez, Francisco Mehta, Sarju G. Nassogne, Marie-Cécile Powell-Hamilton, Nina Pfundt, Rolph Rosello, Monica Prescott, Trine Vasudevan, Pradeep van Loon, Barbara Verellen-Dumoulin, Christine Verloes, Alain Lippe, Charlotte von der Wakeling, Emma Wilkie, Andrew O. M. Wilson, Louise Yuen, Amy Study, DDD Low, Karen J. Newbury-Ecob, Ruth A. European Journal of Human Genetics HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients Genetics (clinical) Genetics |
| author_sort |
moortgat, stéphanie |
| spelling |
Moortgat, Stéphanie Berland, Siren Aukrust, Ingvild Maystadt, Isabelle Baker, Laura Benoit, Valerie Caro-Llopis, Alfonso Cooper, Nicola S. Debray, François-Guillaume Faivre, Laurence Gardeitchik, Thatjana Haukanes, Bjørn I. Houge, Gunnar Kivuva, Emma Martinez, Francisco Mehta, Sarju G. Nassogne, Marie-Cécile Powell-Hamilton, Nina Pfundt, Rolph Rosello, Monica Prescott, Trine Vasudevan, Pradeep van Loon, Barbara Verellen-Dumoulin, Christine Verloes, Alain Lippe, Charlotte von der Wakeling, Emma Wilkie, Andrew O. M. Wilson, Louise Yuen, Amy Study, DDD Low, Karen J. Newbury-Ecob, Ruth A. 1018-4813 1476-5438 Springer Science and Business Media LLC Genetics (clinical) Genetics http://dx.doi.org/10.1038/s41431-017-0038-6 <jats:title>Abstract</jats:title> <jats:p>Whole-gene duplications and missense variants in the <jats:italic>HUWE1</jats:italic> gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay. Missense variants reported previously appear to be associated with severe ID in males and mild or no ID in obligate carrier females. Here, we report the largest cohort of patients with <jats:italic>HUWE1</jats:italic> variants, consisting of 14 females and 7 males, with 15 different missense variants and one splice site variant. Clinical assessment identified common clinical features consisting of moderate to profound ID, delayed or absent speech, short stature with small hands and feet and facial dysmorphism consisting of a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures, and a short philtrum. We describe for the first time that females can be severely affected, despite preferential inactivation of the affected X chromosome. Three females with the c.329 G > A p.Arg110Gln variant, present with a phenotype of mild ID, specific facial features, scoliosis and craniosynostosis, as reported previously in a single patient. In these females, the X inactivation pattern appeared skewed in favour of the affected transcript. In summary, <jats:italic>HUWE1</jats:italic> missense variants may cause syndromic ID in both males and females.</jats:p> HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients European Journal of Human Genetics |
| doi_str_mv |
10.1038/s41431-017-0038-6 |
| facet_avail |
Online Free |
| finc_class_facet |
Biologie |
| format |
ElectronicArticle |
| fullrecord |
blob:ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTAzOC9zNDE0MzEtMDE3LTAwMzgtNg |
| id |
ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTAzOC9zNDE0MzEtMDE3LTAwMzgtNg |
| institution |
DE-L229 DE-D275 DE-Bn3 DE-Brt1 DE-Zwi2 DE-D161 DE-Gla1 DE-Zi4 DE-15 DE-Pl11 DE-Rs1 DE-105 DE-14 DE-Ch1 |
| imprint |
Springer Science and Business Media LLC, 2018 |
| imprint_str_mv |
Springer Science and Business Media LLC, 2018 |
| issn |
1018-4813 1476-5438 |
| issn_str_mv |
1018-4813 1476-5438 |
| language |
English |
| mega_collection |
Springer Science and Business Media LLC (CrossRef) |
| match_str |
moortgat2018huwe1variantscausedominantxlinkedintellectualdisabilityaclinicalstudyof21patients |
| publishDateSort |
2018 |
| publisher |
Springer Science and Business Media LLC |
| recordtype |
ai |
| record_format |
ai |
| series |
European Journal of Human Genetics |
| source_id |
49 |
| title |
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| title_unstemmed |
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| title_full |
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| title_fullStr |
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| title_full_unstemmed |
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| title_short |
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| title_sort |
huwe1 variants cause dominant x-linked intellectual disability: a clinical study of 21 patients |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.1038/s41431-017-0038-6 |
| publishDate |
2018 |
| physical |
64-74 |
| description |
<jats:title>Abstract</jats:title>
<jats:p>Whole-gene duplications and missense variants in the <jats:italic>HUWE1</jats:italic> gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay. Missense variants reported previously appear to be associated with severe ID in males and mild or no ID in obligate carrier females. Here, we report the largest cohort of patients with <jats:italic>HUWE1</jats:italic> variants, consisting of 14 females and 7 males, with 15 different missense variants and one splice site variant. Clinical assessment identified common clinical features consisting of moderate to profound ID, delayed or absent speech, short stature with small hands and feet and facial dysmorphism consisting of a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures, and a short philtrum. We describe for the first time that females can be severely affected, despite preferential inactivation of the affected X chromosome. Three females with the c.329 G > A p.Arg110Gln variant, present with a phenotype of mild ID, specific facial features, scoliosis and craniosynostosis, as reported previously in a single patient. In these females, the X inactivation pattern appeared skewed in favour of the affected transcript. In summary, <jats:italic>HUWE1</jats:italic> missense variants may cause syndromic ID in both males and females.</jats:p> |
| container_issue |
1 |
| container_start_page |
64 |
| container_title |
European Journal of Human Genetics |
| container_volume |
26 |
| format_de105 |
Article, E-Article |
| format_de14 |
Article, E-Article |
| format_de15 |
Article, E-Article |
| format_de520 |
Article, E-Article |
| format_de540 |
Article, E-Article |
| format_dech1 |
Article, E-Article |
| format_ded117 |
Article, E-Article |
| format_degla1 |
E-Article |
| format_del152 |
Buch |
| format_del189 |
Article, E-Article |
| format_dezi4 |
Article |
| format_dezwi2 |
Article, E-Article |
| format_finc |
Article, E-Article |
| format_nrw |
Article, E-Article |
| _version_ |
1792348244925218819 |
| geogr_code |
not assigned |
| last_indexed |
2024-03-01T18:08:06.754Z |
| geogr_code_person |
not assigned |
| openURL |
url_ver=Z39.88-2004&ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fvufind.svn.sourceforge.net%3Agenerator&rft.title=HUWE1+variants+cause+dominant+X-linked+intellectual+disability%3A+a+clinical+study+of+21+patients&rft.date=2018-01-01&genre=article&issn=1476-5438&volume=26&issue=1&spage=64&epage=74&pages=64-74&jtitle=European+Journal+of+Human+Genetics&atitle=HUWE1+variants+cause+dominant+X-linked+intellectual+disability%3A+a+clinical+study+of+21+patients&aulast=Newbury-Ecob&aufirst=Ruth+A.&rft_id=info%3Adoi%2F10.1038%2Fs41431-017-0038-6&rft.language%5B0%5D=eng |
| SOLR | |
| _version_ | 1792348244925218819 |
| author | Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S., Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I., Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G., Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O. M., Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen J., Newbury-Ecob, Ruth A. |
| author_facet | Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S., Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I., Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G., Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O. M., Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen J., Newbury-Ecob, Ruth A., Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S., Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I., Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G., Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O. M., Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen J., Newbury-Ecob, Ruth A. |
| author_sort | moortgat, stéphanie |
| container_issue | 1 |
| container_start_page | 64 |
| container_title | European Journal of Human Genetics |
| container_volume | 26 |
| description | <jats:title>Abstract</jats:title> <jats:p>Whole-gene duplications and missense variants in the <jats:italic>HUWE1</jats:italic> gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay. Missense variants reported previously appear to be associated with severe ID in males and mild or no ID in obligate carrier females. Here, we report the largest cohort of patients with <jats:italic>HUWE1</jats:italic> variants, consisting of 14 females and 7 males, with 15 different missense variants and one splice site variant. Clinical assessment identified common clinical features consisting of moderate to profound ID, delayed or absent speech, short stature with small hands and feet and facial dysmorphism consisting of a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures, and a short philtrum. We describe for the first time that females can be severely affected, despite preferential inactivation of the affected X chromosome. Three females with the c.329 G > A p.Arg110Gln variant, present with a phenotype of mild ID, specific facial features, scoliosis and craniosynostosis, as reported previously in a single patient. In these females, the X inactivation pattern appeared skewed in favour of the affected transcript. In summary, <jats:italic>HUWE1</jats:italic> missense variants may cause syndromic ID in both males and females.</jats:p> |
| doi_str_mv | 10.1038/s41431-017-0038-6 |
| facet_avail | Online, Free |
| finc_class_facet | Biologie |
| format | ElectronicArticle |
| format_de105 | Article, E-Article |
| format_de14 | Article, E-Article |
| format_de15 | Article, E-Article |
| format_de520 | Article, E-Article |
| format_de540 | Article, E-Article |
| format_dech1 | Article, E-Article |
| format_ded117 | Article, E-Article |
| format_degla1 | E-Article |
| format_del152 | Buch |
| format_del189 | Article, E-Article |
| format_dezi4 | Article |
| format_dezwi2 | Article, E-Article |
| format_finc | Article, E-Article |
| format_nrw | Article, E-Article |
| geogr_code | not assigned |
| geogr_code_person | not assigned |
| id | ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTAzOC9zNDE0MzEtMDE3LTAwMzgtNg |
| imprint | Springer Science and Business Media LLC, 2018 |
| imprint_str_mv | Springer Science and Business Media LLC, 2018 |
| institution | DE-L229, DE-D275, DE-Bn3, DE-Brt1, DE-Zwi2, DE-D161, DE-Gla1, DE-Zi4, DE-15, DE-Pl11, DE-Rs1, DE-105, DE-14, DE-Ch1 |
| issn | 1018-4813, 1476-5438 |
| issn_str_mv | 1018-4813, 1476-5438 |
| language | English |
| last_indexed | 2024-03-01T18:08:06.754Z |
| match_str | moortgat2018huwe1variantscausedominantxlinkedintellectualdisabilityaclinicalstudyof21patients |
| mega_collection | Springer Science and Business Media LLC (CrossRef) |
| physical | 64-74 |
| publishDate | 2018 |
| publishDateSort | 2018 |
| publisher | Springer Science and Business Media LLC |
| record_format | ai |
| recordtype | ai |
| series | European Journal of Human Genetics |
| source_id | 49 |
| spelling | Moortgat, Stéphanie Berland, Siren Aukrust, Ingvild Maystadt, Isabelle Baker, Laura Benoit, Valerie Caro-Llopis, Alfonso Cooper, Nicola S. Debray, François-Guillaume Faivre, Laurence Gardeitchik, Thatjana Haukanes, Bjørn I. Houge, Gunnar Kivuva, Emma Martinez, Francisco Mehta, Sarju G. Nassogne, Marie-Cécile Powell-Hamilton, Nina Pfundt, Rolph Rosello, Monica Prescott, Trine Vasudevan, Pradeep van Loon, Barbara Verellen-Dumoulin, Christine Verloes, Alain Lippe, Charlotte von der Wakeling, Emma Wilkie, Andrew O. M. Wilson, Louise Yuen, Amy Study, DDD Low, Karen J. Newbury-Ecob, Ruth A. 1018-4813 1476-5438 Springer Science and Business Media LLC Genetics (clinical) Genetics http://dx.doi.org/10.1038/s41431-017-0038-6 <jats:title>Abstract</jats:title> <jats:p>Whole-gene duplications and missense variants in the <jats:italic>HUWE1</jats:italic> gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay. Missense variants reported previously appear to be associated with severe ID in males and mild or no ID in obligate carrier females. Here, we report the largest cohort of patients with <jats:italic>HUWE1</jats:italic> variants, consisting of 14 females and 7 males, with 15 different missense variants and one splice site variant. Clinical assessment identified common clinical features consisting of moderate to profound ID, delayed or absent speech, short stature with small hands and feet and facial dysmorphism consisting of a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures, and a short philtrum. We describe for the first time that females can be severely affected, despite preferential inactivation of the affected X chromosome. Three females with the c.329 G > A p.Arg110Gln variant, present with a phenotype of mild ID, specific facial features, scoliosis and craniosynostosis, as reported previously in a single patient. In these females, the X inactivation pattern appeared skewed in favour of the affected transcript. In summary, <jats:italic>HUWE1</jats:italic> missense variants may cause syndromic ID in both males and females.</jats:p> HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients European Journal of Human Genetics |
| spellingShingle | Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S., Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I., Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G., Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O. M., Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen J., Newbury-Ecob, Ruth A., European Journal of Human Genetics, HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients, Genetics (clinical), Genetics |
| title | HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| title_full | HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| title_fullStr | HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| title_full_unstemmed | HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| title_short | HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| title_sort | huwe1 variants cause dominant x-linked intellectual disability: a clinical study of 21 patients |
| title_unstemmed | HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.1038/s41431-017-0038-6 |