Publicação
Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation
| Resumo: | Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1–q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p.Gln154*) in exon 4 of the WNT10B gene in two families (A and B). In the other two families (C and D), a previously reported variant (c.300_306dupAGGGCGG; p.Leu103Argfs*53) was detected. This study further expands the spectrum of the sequence variants reported in the WNT10B gene, which result in the split hand/foot malformation. |
|---|---|
| Autores principais: | Ullah,Asmat |
| Outros Autores: | Gul,Ajab; Umair,Muhammad; Irfanullah,; Ahmad,Farooq; Aziz,Abdul; Wali,Abdul; Ahmad,Wasim |
| Assunto: | Split-Hand-Foot Malformation 6 WNT10B gene sequence variants |
| Ano: | 2018 |
| País: | Brasil |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | IBICT |
| Idioma: | inglês |
| Origem: | Oasisbr |
| _version_ | 1871507312661757952 |
|---|---|
| author | Ullah,Asmat |
| author2 | Gul,Ajab Umair,Muhammad Irfanullah, Ahmad,Farooq Aziz,Abdul Wali,Abdul Ahmad,Wasim |
| author2_role | author author author author author author author |
| author_facet | Ullah,Asmat Gul,Ajab Umair,Muhammad Irfanullah, Ahmad,Farooq Aziz,Abdul Wali,Abdul Ahmad,Wasim |
| author_role | author |
| country_str | BR |
| creators_json_txt | [{\"Person.name\":\"Ullah,Asmat\"},{\"Person.name\":\"Gul,Ajab\"},{\"Person.name\":\"Umair,Muhammad\"},{\"Person.name\":\"Irfanullah,\"},{\"Person.name\":\"Ahmad,Farooq\"},{\"Person.name\":\"Aziz,Abdul\"},{\"Person.name\":\"Wali,Abdul\"},{\"Person.name\":\"Ahmad,Wasim\"}] |
| datacite.creators.creator.creatorName.fl_str_mv | Ullah,Asmat Gul,Ajab Umair,Muhammad Irfanullah, Ahmad,Farooq Aziz,Abdul Wali,Abdul Ahmad,Wasim |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| datacite.subjects.subject.fl_str_mv | Split-Hand-Foot Malformation 6 WNT10B gene sequence variants |
| datacite.titles.title.fl_str_mv | Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation |
| dc.creator.none.fl_str_mv | Ullah,Asmat Gul,Ajab Umair,Muhammad Irfanullah, Ahmad,Farooq Aziz,Abdul Wali,Abdul Ahmad,Wasim |
| dc.format.none.fl_str_mv | text/html |
| dc.identifier.none.fl_str_mv | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100001 |
| dc.language.none.fl_str_mv | eng |
| dc.publisher.none.fl_str_mv | Sociedade Brasileira de Genética |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| dc.source.none.fl_str_mv | Genetics and Molecular Biology v.41 n.1 2018 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
| dc.subject.none.fl_str_mv | Split-Hand-Foot Malformation 6 WNT10B gene sequence variants |
| dc.title.fl_str_mv | Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_6501 |
| description | Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1–q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p.Gln154*) in exon 4 of the WNT10B gene in two families (A and B). In the other two families (C and D), a previously reported variant (c.300_306dupAGGGCGG; p.Leu103Argfs*53) was detected. This study further expands the spectrum of the sequence variants reported in the WNT10B gene, which result in the split hand/foot malformation. |
| dirty | 0 |
| eu_rights_str_mv | openAccess |
| format | article |
| id | oasisbr_bd4a9bda46ec188d2b26e795ecde194a |
| identifier.url.fl_str_mv | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100001 |
| inst_facet_str | urn:organizationAcronym:oasisbr{{{_:::_}}}IBICT |
| instacron_str | OASISBR |
| institution | IBICT |
| instname_str | IBICT |
| language | eng |
| network_acronym_str | oasisbr |
| network_name_str | Oasisbr |
| oai_identifier_str | oai:scielo:S1415-47572018000100001 |
| organization_str_mv | urn:organizationAcronym:oasisbr |
| person_str_mv | Ullah,Asmat Gul,Ajab Umair,Muhammad Irfanullah, Ahmad,Farooq Aziz,Abdul Wali,Abdul Ahmad,Wasim |
| publishDate | 2018 |
| publisher.none.fl_str_mv | Sociedade Brasileira de Genética |
| repo_facet_str | urn:repositoryAcronym:oasisbr{{{_:::_}}}Oasisbr |
| reponame_str | Oasisbr |
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| spelling | Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformationUllah,AsmatGul,AjabUmair,MuhammadIrfanullah,Ahmad,FarooqAziz,AbdulWali,AbdulAhmad,WasimSplit-Hand-Foot Malformation 6WNT10B genesequence variantsopen accesshttp://purl.org/coar/access_right/c_abf2http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100001URLhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100001URLHasVersion2018-03-01Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1–q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p.Gln154*) in exon 4 of the WNT10B gene in two families (A and B). In the other two families (C and D), a previously reported variant (c.300_306dupAGGGCGG; p.Leu103Argfs*53) was detected. This study further expands the spectrum of the sequence variants reported in the WNT10B gene, which result in the split hand/foot malformation.engtext/htmlSociedade Brasileira de GenéticaGenetics and Molecular Biology v.41 n.1 2018reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBGjournal articlehttp://purl.org/coar/resource_type/c_6501literatureVoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85 |
| spellingShingle | Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation Ullah,Asmat Split-Hand-Foot Malformation 6 WNT10B gene sequence variants |
| status | SINGLETON |
| status_str | VoR |
| subject.fl_str_mv | Split-Hand-Foot Malformation 6 WNT10B gene sequence variants |
| title | Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation |
| title_full | Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation |
| title_fullStr | Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation |
| title_full_unstemmed | Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation |
| title_short | Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation |
| title_sort | Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation |
| topic | Split-Hand-Foot Malformation 6 WNT10B gene sequence variants |
| topic_facet | Split-Hand-Foot Malformation 6 WNT10B gene sequence variants |
| url | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100001 |
| visible | 1 |
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