Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Standard
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.
I: American Journal of Medical Genetics. Part A, Bind 167, Nr. 5, 05.2015, s. 1008-17.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
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
N1 - © 2015 Wiley Periodicals, Inc.
PY - 2015/5
Y1 - 2015/5
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 - Abnormalities, Multiple
KW - Adolescent
KW - Adult
KW - Aged
KW - Child
KW - Child, Preschool
KW - Chromosome Deletion
KW - Chromosomes, Human, Pair 1
KW - Comparative Genomic Hybridization
KW - Female
KW - Genetic Association Studies
KW - Humans
KW - In Situ Hybridization, Fluorescence
KW - Infant
KW - Infant, Newborn
KW - Intellectual Disability
KW - Male
KW - Middle Aged
KW - Phenotype
U2 - 10.1002/ajmg.a.36856
DO - 10.1002/ajmg.a.36856
M3 - Journal article
C2 - 25728055
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 -
ID: 162338770