Cargando…

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

BACKGROUND: Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplication involving 17p13.3 region has been described as the m...

Descripción completa

Detalles Bibliográficos
Autores principales: Paththinige, Chamara Sampath, Sirisena, Nirmala Dushyanthi, Escande, Fabienne, Manouvrier, Sylvie, Petit, Florence, Dissanayake, Vajira Harshadeva Weerabaddana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6570964/
https://www.ncbi.nlm.nih.gov/pubmed/31200655
http://dx.doi.org/10.1186/s12881-019-0839-2
_version_ 1783427337121955840
author Paththinige, Chamara Sampath
Sirisena, Nirmala Dushyanthi
Escande, Fabienne
Manouvrier, Sylvie
Petit, Florence
Dissanayake, Vajira Harshadeva Weerabaddana
author_facet Paththinige, Chamara Sampath
Sirisena, Nirmala Dushyanthi
Escande, Fabienne
Manouvrier, Sylvie
Petit, Florence
Dissanayake, Vajira Harshadeva Weerabaddana
author_sort Paththinige, Chamara Sampath
collection PubMed
description BACKGROUND: Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplication involving 17p13.3 region has been described as the most common cause of split hand/foot malformation with long bone deficiency (SHFLD) in several different Caucasian and Asian populations. Gene dosage effect of the extra copies of BHLHA9 gene at this locus has been implicated in the pathogenesis of SHFLD. CASE PRESENTATION: The proband was a female child born to non-consanguineous parents. She was referred for genetic evaluation of bilateral asymmetric ectrodactyly involving both hands and right foot along with right tibial hemimelia. The right foot had fixed clubfoot deformity with only 2 toes. The mother had bilateral ectrodactyly involving both hands, but the rest of the upper limbs and both lower limbs were normal. Neither of them had any other congenital malformations or neurodevelopmental abnormalities. Genetic testing for rearrangement of BHLHA9 gene by quantitative polymerase chain reaction confirmed the duplication of the BHLHA9 gene in both the proband and the mother. CONCLUSIONS: We report the first Sri Lankan family with genetic diagnosis of BHLHA9 duplication causing SHFLD. This report along with the previously reported cases corroborate the possible etiopathogenic role of BHLHA9 gene dosage imbalances in SHFM and SHFLD across different populations.
format Online
Article
Text
id pubmed-6570964
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-65709642019-06-20 Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature Paththinige, Chamara Sampath Sirisena, Nirmala Dushyanthi Escande, Fabienne Manouvrier, Sylvie Petit, Florence Dissanayake, Vajira Harshadeva Weerabaddana BMC Med Genet Case Report BACKGROUND: Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplication involving 17p13.3 region has been described as the most common cause of split hand/foot malformation with long bone deficiency (SHFLD) in several different Caucasian and Asian populations. Gene dosage effect of the extra copies of BHLHA9 gene at this locus has been implicated in the pathogenesis of SHFLD. CASE PRESENTATION: The proband was a female child born to non-consanguineous parents. She was referred for genetic evaluation of bilateral asymmetric ectrodactyly involving both hands and right foot along with right tibial hemimelia. The right foot had fixed clubfoot deformity with only 2 toes. The mother had bilateral ectrodactyly involving both hands, but the rest of the upper limbs and both lower limbs were normal. Neither of them had any other congenital malformations or neurodevelopmental abnormalities. Genetic testing for rearrangement of BHLHA9 gene by quantitative polymerase chain reaction confirmed the duplication of the BHLHA9 gene in both the proband and the mother. CONCLUSIONS: We report the first Sri Lankan family with genetic diagnosis of BHLHA9 duplication causing SHFLD. This report along with the previously reported cases corroborate the possible etiopathogenic role of BHLHA9 gene dosage imbalances in SHFM and SHFLD across different populations. BioMed Central 2019-06-14 /pmc/articles/PMC6570964/ /pubmed/31200655 http://dx.doi.org/10.1186/s12881-019-0839-2 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Paththinige, Chamara Sampath
Sirisena, Nirmala Dushyanthi
Escande, Fabienne
Manouvrier, Sylvie
Petit, Florence
Dissanayake, Vajira Harshadeva Weerabaddana
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
title Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
title_full Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
title_fullStr Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
title_full_unstemmed Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
title_short Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
title_sort split hand/foot malformation with long bone deficiency associated with bhlha9 gene duplication: a case report and review of literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6570964/
https://www.ncbi.nlm.nih.gov/pubmed/31200655
http://dx.doi.org/10.1186/s12881-019-0839-2
work_keys_str_mv AT paththinigechamarasampath splithandfootmalformationwithlongbonedeficiencyassociatedwithbhlha9geneduplicationacasereportandreviewofliterature
AT sirisenanirmaladushyanthi splithandfootmalformationwithlongbonedeficiencyassociatedwithbhlha9geneduplicationacasereportandreviewofliterature
AT escandefabienne splithandfootmalformationwithlongbonedeficiencyassociatedwithbhlha9geneduplicationacasereportandreviewofliterature
AT manouvriersylvie splithandfootmalformationwithlongbonedeficiencyassociatedwithbhlha9geneduplicationacasereportandreviewofliterature
AT petitflorence splithandfootmalformationwithlongbonedeficiencyassociatedwithbhlha9geneduplicationacasereportandreviewofliterature
AT dissanayakevajiraharshadevaweerabaddana splithandfootmalformationwithlongbonedeficiencyassociatedwithbhlha9geneduplicationacasereportandreviewofliterature