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Case Reports
. 2019 Apr 23;13(1):100.
doi: 10.1186/s13256-019-2043-6.

Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report

Martina Siracusano  1   2 , Assia Riccioni  3 , Antonia Baratta  3 , Maurizia Baldi  4 , Paolo Curatolo  3 , Luigi Mazzone  3
Affiliations
Case Reports

Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report

Martina Siracusano et al. J Med Case Rep. .

Abstract

Background: Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and ocular hypertelorism. Little is known about the neuropsychological phenotype and the developmental features of this syndrome.

Case presentation: We describe the clinical features of a 7-year-old Italian white boy affected by Greig cephalopolysyndactyly syndrome in comorbidity with autism spectrum disorder and the case of his 45-year-old white father, carrying the same point deletion (c.3677del) in the GLI3 gene and showing subclinical autistic symptoms. We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative, and behavioral skills of the child. Concurrently, the father underwent his first psychiatric evaluation of cognitive skills and autistic symptoms.

Conclusions: We report the first clinical description of an association between autistic symptoms and Greig cephalopolysyndactyly syndrome in two members of the same family with the same genetic point deletion. Further research is required in order to draw an accurate conclusion regarding the association between Greig cephalopolysyndactyly syndrome and autism.

Keywords: Autism; Comorbidity; Development; Greig cephalopolysyndactyly syndrome; Intellectual disability; Neuropsychological phenotype.

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Conflict of interest statement

Ethics approval

Ethical approval was not required for the publication of this case report as this does not involve sharing of the personal details of the patient.

Consent for publication

Written informed consent was obtained from the patient’s legal guardians for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Competing interests

The authors declare that they have no competing interests.

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Figures

Fig. 1
Fig. 1
Sequence chromatogram. Sequence chromatogram showing the point mutation (c.3677del in the GLI3 gene) compared to a normal control
See this image and copyright information in PMC

References

    1. Biesecker LG. The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis. 2008;3:10. doi: 10.1186/1750-1172-3-10. - DOI - PMC - PubMed
    1. Kang S, Graham JM, Jr, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997;15:266–268. doi: 10.1038/ng0397-266. - DOI - PubMed
    1. Vortkamp A, Gessler M, Grzeschik K-H. GLI3 zinc finger gene interrupted by translocations in Greig syndrome families. Nature. 1991;352:539–540. doi: 10.1038/352539a0. - DOI - PubMed
    1. Balk K, Biesecker LG. The clinical atlas of Greig cephalopolysyndactyly syndrome. Am J Med Genet Part A. 2008;146A:548–557. doi: 10.1002/ajmg.a.32167. - DOI - PubMed
    1. Démurger F, Ichkou A, Mougou-Zerelli S, et al. New insights into genotype–phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015;23(1):92–102. doi: 10.1038/ejhg.2014.62. - DOI - PMC - PubMed

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