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Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

Nicolas Chatron 1 Véronique Haddad 2 Joris Andrieux 3 Julie Desir 4 Odile Boute 5 Anne Dieux 5 Clarisse Baumann 6 Séverine Drunat 6 Marion Gérard 7 Céline Bonnet 8 Bruno Leheup 9, 8 Marianne Till 1, 10 Massimiliano Rossi 11, 10 Elisabeth Flori 12 Yves Alembik 13 Helen Stewart 14 Joanna Mcparland 14 Laura Bernardini 15 Pia Castelluccio 15, 16 Laura Roos 17 Zeynep Tümer 17 Kerry Fagan 18 Anna Hackett 18 Nicole Bain 18 Arie van Haeringen 19 Claudia Ruivenkamp 20 Brigitte Benzacken 21, 2 Damien Sanlaville 1, 11 Patrick Edery 10, 11 Azzedine Aboura 2, 22 Caroline Schluth-Bolard 23, 1
Abstract : Interstitial deletion 1q24q25 is a rare rearrangement associated with intellectual disability, growth retardation, abnormal extremities and facial dysmorphism. In this study, we describe the largest series reported to date, including 18 patients (4M/14F) aged from 2 days to 67 years and comprising two familial cases. The patients presented with a characteristic phenotype including mild to moderate intellectual disability (100%), intrauterine (92%) and postnatal (94%) growth retardation, microcephaly (77%), short hands and feet (83%), brachydactyly (70%), fifth finger clinodactyly (78%) and facial dysmorphism with a bulbous nose (72%), abnormal ears (67%) and micrognathia (56%). Other findings were abnormal palate (50%), single transverse palmar crease (53%), renal (38%), cardiac (38%), and genital (23%) malformations. The deletions were characterized by chromosome microarray. They were of different sizes (490 kb to 20.95 Mb) localized within chromosome bands 1q23.3-q31.2 (chr1:160797550-192912120, hg19). The 490 kb deletion is the smallest deletion reported to date associated with this phenotype. We delineated three regions that may contribute to the phenotype: a proximal one (chr1:164,501,003-167,022,133), associated with cardiac and renal anomalies, a distal one (chr1:178,514,910-181,269,712) and an intermediate 490 kb region (chr1:171970575-172460683, hg19), deleted in the most of the patients, and containing DNM3, MIR3120 and MIR214 that may play an important role in the phenotype. However, this genetic region seems complex with multiple regions giving rise to the same phenotype.
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Submitted on : Monday, January 15, 2018 - 12:43:36 PM
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Nicolas Chatron, Véronique Haddad, Joris Andrieux, Julie Desir, Odile Boute, et al.. Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion. American Journal of Medical Genetics Part A, Wiley, 2015, 167 (5), pp.1008 - 1017. ⟨10.1002/ajmg.a.36856⟩. ⟨hal-01684281⟩

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