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.
| Original language | English |
|---|---|
| Pages (from-to) | 1008-1017 |
| Number of pages | 10 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 167 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - May 1 2015 |
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Keywords
- 1q24q25 deletion
- Brachydactyly
- DNM3
- Growth retardation
- Intellectual disability
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
- Medicine(all)
Cite this
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion. / Chatron, Nicolas; Haddad, Véronique; Andrieux, Joris; Désir, Julie; Boute, Odile; Dieux, Anne; Baumann, Clarisse; Drunat, Séverine; Gérard, Marion; Bonnet, Céline; Leheup, Bruno; Till, Marianne; Rossi, Massimiliano; Flori, Elisabeth; Alembik, Yves; Stewart, Helen; Mcparland, Joanna; Bernardini, Laura; Castelluccio, Pia; Roos, Laura; Tümer, Zeynep; Fagan, Kerry; Hackett, Anna; Bain, Nicole; van Haeringen, Arie; Ruivenkamp, Claudia; Benzacken, Brigitte; Sanlaville, Damien; Edery, Patrick; Aboura, Azzedine; Schluth-Bolard, Caroline.
In: American Journal of Medical Genetics, Part A, Vol. 167, No. 5, 01.05.2015, p. 1008-1017.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion
AU - Chatron, Nicolas
AU - Haddad, Véronique
AU - Andrieux, Joris
AU - Désir, Julie
AU - Boute, Odile
AU - Dieux, Anne
AU - Baumann, Clarisse
AU - Drunat, Séverine
AU - Gérard, Marion
AU - Bonnet, Céline
AU - Leheup, Bruno
AU - Till, Marianne
AU - Rossi, Massimiliano
AU - Flori, Elisabeth
AU - Alembik, Yves
AU - Stewart, Helen
AU - Mcparland, Joanna
AU - Bernardini, Laura
AU - Castelluccio, Pia
AU - Roos, Laura
AU - Tümer, Zeynep
AU - Fagan, Kerry
AU - Hackett, Anna
AU - Bain, Nicole
AU - van Haeringen, Arie
AU - Ruivenkamp, Claudia
AU - Benzacken, Brigitte
AU - Sanlaville, Damien
AU - Edery, Patrick
AU - Aboura, Azzedine
AU - Schluth-Bolard, Caroline
PY - 2015/5/1
Y1 - 2015/5/1
N2 - 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.
AB - 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.
KW - 1q24q25 deletion
KW - Brachydactyly
KW - DNM3
KW - Growth retardation
KW - Intellectual disability
UR - http://www.scopus.com/inward/record.url?scp=84927910371&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84927910371&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36856
DO - 10.1002/ajmg.a.36856
M3 - Article
VL - 167
SP - 1008
EP - 1017
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 5
ER -