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Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes

Neri, Sabrina, Maia, Nuno, Fortuna, Ana M., Damasio, Joana, Coale, Elizabeth, Willis, Mary, Jorge, Paula, Højte, Anne F., Fenger, Christina D., Møller, Rikke S., Bayat, Allan·2022·European Journal of Medical Genetics
DOI 10.1016/j.ejmg.2022.104624
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Abstract

Ritscher-Schinzel syndrome (RTSCS) is a rare genetic condition characterized by peculiar craniofacial features and cerebellar and cardiovascular malformations. To date, four genes are implicated in this condition. The first two genes described were the autosomal recessive inherited gene WASHC5 associated with Ritscher-Schinzel syndrome 1 (RTSCS1), and CCDC22, an X-linked recessive gene causing Ritscher-Schinzel syndrome 2 (RTSCS2). In recent years, two other genes have been identified: VPS35L (RTSCS3) and DPYSL5 (RTSCS4). Only few patients with a molecular diagnosis of RTSCS have been reported, leaving the phenotypical spectrum and genotype-phenotype correlations ill-defined. We expand the number of genetically confirmed patients with RTSCS1 and 2; reporting three live born and three terminated pregnancies from two unrelated families. Four siblings carried compound heterozygous variants in WASHC5 while two siblings harboured a hemizygous CCDC22 variant. The most common findings in all patients were craniofacial dysmorphism, particularly macrocephaly, down slanted palpebral fissures and low set-ears. Developmental delay, intellectual disability and ataxic gait were present in all patients. One of the patients with the CCDC22 variant presented pubertas tarda. Elevation of nuchal translucency was observed in the first trimester ultrasound in three foetuses with compound heterozygous variants in WASHC5. None of the patients had epilepsy. The pre- and postnatal findings of this co…

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Research works printed but not linked: 23

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Metadata

Authors
Neri, S., Maia, N., Fortuna, A. M., Damasio, J., Coale, E., Willis, M., Jorge, P., Højte, A. F., Fenger, C. D., Møller, R. S., & Bayat, A.
Venue
European Journal of Medical Genetics
Publisher
Elsevier BV
Published
2022-11
Volume
65
Issue
11
Pages
104624
ISSN
1769-7212
DOI
10.1016/j.ejmg.2022.104624
Cited by
16
References
2
Language
en
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