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

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  • Nicolas Chatron
  • Véronique Haddad
  • Joris Andrieux
  • Julie Désir
  • Odile Boute
  • Anne Dieux
  • Clarisse Baumann
  • Séverine Drunat
  • Marion Gérard
  • Céline Bonnet
  • Bruno Leheup
  • Marianne Till
  • Massimiliano Rossi
  • Elisabeth Flori
  • Yves Alembik
  • Helen Stewart
  • Joanna McParland
  • Laura Bernardini
  • Pia Castelluccio
  • Laura Roos
  • Zeynep Tümer
  • Kerry Fagan
  • Anna Hackett
  • Nicole Bain
  • Arie van Haeringen
  • Claudia Ruivenkamp
  • Brigitte Benzacken
  • Damien Sanlaville
  • Patrick Edery
  • Azzedine Aboura
  • Caroline Schluth-Bolard
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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. © 2015 Wiley Periodicals, Inc.

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume167
Issue number5
Pages (from-to)1008-17
ISSN1552-4825
DOIs
Publication statusPublished - 25 Feb 2015

ID: 45093434