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. 2024 Apr;194(4):e63476.
doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

Guillaume Jedraszak  1   2 , Florence Jobic  3 , Aline Receveur  1 , Frédéric Bilan  4 , Brigitte Gilbert-Dussardier  5 , Busa Tiffany  6 , Chantal Missirian  7 , Marjolaine Willems  8 , Sylvie Odent  9 , Josette Lucas  10 , Christele Dubourg  11 , Elise Schaefer  12 , Sophie Scheidecker  13 , James Lespinasse  14 , Alice Goldenberg  15 , Anne-Marie Guerrot  15 , Géraldine Joly-Helas  16 , Pascal Chambon  16 , Cédric Le Caignec  17 , Albert David  18 , Charles Coutton  19 , Véronique Satre  19 , Gaëlle Vieville  20 , Florence Amblard  20 , Radu Harbuz  20 , Damien Sanlaville  21 , Marianne Till  21 , Catherine Vincent-Delorme  22 , Cindy Colson  22 , Joris Andrieux  23 , Sophie Naudion  24 , Jérome Toutain  24 , Caroline Rooryck  25 , Bénédicte de Fréminville  26 , Fabienne Prieur  27 , Valérie Cormier Daire  28 , Daniel Amram  29 , Pascale Kleinfinger  30 , Gisela Raabe-Meyer  31 , Carolina Courage  32 , Johannes Lemke  33 , Eunice G Stefanou  34 , Thomaidis Loretta  35 , Manolakos Emmanouil  36 , Sophia Kitsiou Tzeli  37 , Henryka Sodowska  38 , Jasen Anderson  39 , Adayapalam Nandini  40 , Henri Copin  1 , Loïc Garçon  1   2 , Thomas Liehr  41 , Gilles Morin  3
Affiliations

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

Guillaume Jedraszak et al. Am J Med Genet A. 2024 Apr.

Erratum in

Abstract

Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of 22p-22q11.21. CES is classically defined by association of iris coloboma, anal atresia, and preauricular tags or pits, with high clinical and genetic heterogeneity. We conducted an international retrospective study of patients carrying genomic gain in the 22q11.21 chromosomal region upstream from LCR22-A identified using FISH, MLPA, and/or array-CGH. We report a cohort of 43 CES cases. We highlight that the clinical triad represents no more than 50% of cases. However, only 16% of CES patients presented with the three signs of the triad and 9% not present any of these three signs. We also highlight the importance of other impairments: cardiac anomalies are one of the major signs of CES (51% of cases), and high frequency of intellectual disability (47%). Ocular motility defects (45%), abdominal malformations (44%), ophthalmologic malformations (35%), and genitourinary tract defects (32%) are other frequent clinical features. We observed that sSMC is the most frequent chromosomal anomaly (91%) and we highlight the high prevalence of mosaic cases (40%) and the unexpectedly high prevalence of parental transmission of sSMC (23%). Most often, the transmitting parent has mild or absent features and carries the mosaic marker at a very low rate (<10%). These data allow us to better delineate the clinical phenotype associated with CES, which must be taken into account in the cytogenetic testing for this syndrome. These findings draw attention to the need for genetic counseling and the risk of recurrence.

Keywords: 22q11.2 region; FISH; array-CGH; cat eye syndrome; congenital heart disease; eye anomalies; familial disease; heart defect; mosacism; parental transmission; small supernumerary marker chromosome (sSMC).

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References

REFERENCES

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