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Article

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Journal of medical genetics - 1 Feb 2012

Klopocki Eva, Lohan Silke, Doelken Sandra C, Stricker Sigmar, Ockeloen Charlotte W, Soares Thiele de Aguiar Renata, Lezirovitz Karina, Mingroni Netto Regina Celia, Jamsheer Aleksander, Shah Hitesh, Kurth Ingo, Habenicht Rolf, Warman Matthew, Devriendt Koenraad, Kordass Ulrike, Hempel Maja, Rajab Anna, Mäkitie Outi, Naveed Mohammed, Radhakrishna Uppala, Antonarakis Stylianos E, Horn Denise, Mundlos Stefan

Abstract excerpt

BACKGROUND: Split-hand/foot malformation (SHFM)-also known as ectrodactyly-is a congenital disorder characterised by severe malformations of the distal limbs affecting the central rays of hands and/or feet. A distinct entity termed SHFLD presents with SHFM and long bone deficiency. Mouse models suggest that a defect of the central apical ectodermal ridge leads to the phenotype. Although six different...

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Basic Helix-Loop-Helix Transcription Factors
Ectromelia
Fingers
Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hand Deformities, Congenital

Inheritance Patterns

Limb Deformities, Congenital

Source

Identifiers

PMID: 22147889
DOI: 10.1136/jmedgenet-2011-100409

Genes

BHLHA9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.PMID 22147889Read ↗

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.Semantic proximity Read ↗

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.Semantic proximity Read ↗

Bhlha9 regulates apical ectodermal ridge formation during limb development.Semantic proximity Read ↗

17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.Semantic proximity Read ↗

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.Semantic proximity Read ↗

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangementsSemantic proximity Read ↗

Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation.Semantic proximity Read ↗

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb developmentSemantic proximity Read ↗

Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation.Semantic proximity Read ↗

Split hand foot malformation is associated with a reduced level of Dactylin gene expression.Semantic proximity Read ↗

Pathogenesis of split-hand/split-foot malformation.Semantic proximity Read ↗

Split-hand/foot malformation - molecular cause and implications in genetic counseling.Semantic proximity Read ↗

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