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A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome

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Abstract

Background

Adams-Oliver syndrome (AOS) (#614,219) is a multiple malformation disorder characterized by the presence of aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD).

Methods and results

We describe a confirmed case of AOS with a novel pathogenic variation in Dedicator Of Cytokinesis 6 (DOCK6) gene, with neurological abnormalities, characterized by the presence of a multiple malformation entity with extensive cardiological and neurological abnormalities.

Conclusions

In AOS, genotype-phenotype correlations have been described. DOCK6 mutations appear to be related with congenital cardiac and central nervous system malformations associated with intellectual disability, as illustrated in the present case.

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Fig. 1

Abbreviations

ACC:

aplasia cutis congenita

AOS:

Adams-Oliver Syndrome

ARHGAP31 :

Rho GTPase activating protein 31

CGHa:

Comparative Genomic Hybridization array

CMTC:

cutis marmorata telangiectatica congenita

EOGT :

EGF domain specific O-linked N-acetylglucosamine transferase

DLL4 :

delta like canonical Notch ligand 4

DOCK6 :

Dedicator Of Cytokinesis 6

MS-MLPA:

Methylation-Specific Multiplex Ligation Probe Amplification

NOTCH1 :

NOTCH receptor 1

NGS:

Next-Generation Sequencing

RBPJ :

Recombination signal binding protein for immunoglobulin kappa J region

TTLD:

transverse terminal limb defects

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Funding

The authors have not received any financial support or funding on this project.

Author information

Authors and Affiliations

  1. Department of Dermatology and Venereology, Hospital General Universitario Gregorio Marañón, Universidad Complutense de Madrid, 46 Doctor Esquerdo St, 28007, Madrid, Spain

    Lula Maria Nieto-Benito, Ricardo Suárez-Fernández & Minia Campos-Domínguez

  2. Laboratory of Immune-regulation, “Gregorio Marañón” Health Research Institute (IISGM), Madrid, Spain

    Minia Campos-Domínguez

  3. Medical School, Universidad Complutense de Madrid, Madrid, Spain

    Minia Campos-Domínguez

Authors
  1. Lula Maria Nieto-Benito
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  2. Ricardo Suárez-Fernández
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  3. Minia Campos-Domínguez
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Contributions

All authors have contributed to the conception and design of the work, methodology and investigation of the clinical case and revise its content. LMNB participated in writing – drafting the initial manuscript and LMNB, RSF and MCD collaborated in reviewing/editing the manuscript and agree to publish the final version submitted to your journal.a

Corresponding author

Correspondence to Lula Maria Nieto-Benito.

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Ethics approval

Approval from our Ethics Institutional Board (Comité Ético de Investigación Clínica, Hospital General Universitario Gregorio Marañón) was obtained prior to the design and production of this paper.

Conflict of interest

The authors have indicated no significant interest with commercial supporters.

Patient consent form

Parents’ consent to publish the clinical case and photographs; patient’s consent forms were obtained before the production of this paper.

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Nieto-Benito, L., Suárez-Fernández, R. & Campos-Domínguez, M. A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome. Mol Biol Rep 50, 5519–5521 (2023). https://doi.org/10.1007/s11033-023-08430-4

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  • DOI: https://doi.org/10.1007/s11033-023-08430-4

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