TY - JOUR
T1 - 5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome
AU - Bayat, Allan
AU - Bayat, Michael
AU - Broers, Chantal
AU - Polstra, Abeltje M
AU - Zwijnenburg, Petra J G
AU - Hjortshøj, Tina Duelund
N1 - © 2021 Wiley Periodicals LLC.
PY - 2021/12
Y1 - 2021/12
N2 - Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. DHX29 and IL6ST have been proposed as candidate genes for the development of the major clinical manifestations. We present a new case and narrow down the shortest region of overlap to evaluate possible candidate genes. Our case does not present developmental delay or immune deficiency indicating a reduced penetrance for some of the main clinical manifestations. The shortest region of overlap between subjects with deletions at 5q11.2 is approximately 450 kb (position 54.3-54.7 Mb). The narrowed region comprises 10 protein coding genes, including DHX29. DHX29 is a strong candidate gene for the main features of 5q11.2-microdeletion syndrome; however, our findings suggest a joined impact of several genes as the cause of the syndrome.
AB - Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. DHX29 and IL6ST have been proposed as candidate genes for the development of the major clinical manifestations. We present a new case and narrow down the shortest region of overlap to evaluate possible candidate genes. Our case does not present developmental delay or immune deficiency indicating a reduced penetrance for some of the main clinical manifestations. The shortest region of overlap between subjects with deletions at 5q11.2 is approximately 450 kb (position 54.3-54.7 Mb). The narrowed region comprises 10 protein coding genes, including DHX29. DHX29 is a strong candidate gene for the main features of 5q11.2-microdeletion syndrome; however, our findings suggest a joined impact of several genes as the cause of the syndrome.
KW - Abnormalities, Multiple/genetics
KW - Anemia, Macrocytic/genetics
KW - Child, Preschool
KW - Chromosome Deletion
KW - Chromosomes, Human, Pair 5/genetics
KW - Comparative Genomic Hybridization
KW - Cytokine Receptor gp130/genetics
KW - Developmental Disabilities/genetics
KW - Facies
KW - Heart Defects, Congenital/genetics
KW - Humans
KW - Infant
KW - Infant, Newborn
KW - Intellectual Disability/genetics
KW - Learning Disabilities/genetics
KW - Male
KW - Phenotype
KW - RNA Helicases/genetics
U2 - 10.1002/ajmg.a.62428
DO - 10.1002/ajmg.a.62428
M3 - Article
C2 - 34322994
VL - 185
SP - 3844
EP - 3850
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 12
ER -