TY - JOUR
T1 - 1.9Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region
T2 - Dissecting the phenotype
AU - Izumi, Kosuke
AU - Brooks, Susan S.
AU - Feret, Holly A.
AU - Zackai, Elaine H.
PY - 2012/7
Y1 - 2012/7
N2 - Braddock-Carey syndrome is characterized by Pierre Robin sequence, agenesis of the corpus callosum, facial dysmorphisms, developmental delay, and congenital thrombocytopenia. Recently, Braddock-Carey syndrome was demonstrated to be caused by chromosomal microdeletion in 21q22 including the RUNX1 gene, whose haploinsufficiency is responsible for thrombocytopenia phenotype. Therefore, the syndrome has emerged as a contiguous gene deletion syndrome. Here, we describe an infant with Pierre Robin sequence, facial anomalies, congenital heart defects, hypotonia, and the absence of thrombocytopenia, who was found to have a 1.9Mb microdeletion within the Braddock-Carey contiguous deletion syndrome region. This deletion spares the RUNX1 gene, narrowing the genomic region responsible for a part of the Braddock-Carey syndrome phenotype. Further studies are awaited to understand the role of the genes located within 21q22 in the pathogenesis of Braddock-Carey syndrome.
AB - Braddock-Carey syndrome is characterized by Pierre Robin sequence, agenesis of the corpus callosum, facial dysmorphisms, developmental delay, and congenital thrombocytopenia. Recently, Braddock-Carey syndrome was demonstrated to be caused by chromosomal microdeletion in 21q22 including the RUNX1 gene, whose haploinsufficiency is responsible for thrombocytopenia phenotype. Therefore, the syndrome has emerged as a contiguous gene deletion syndrome. Here, we describe an infant with Pierre Robin sequence, facial anomalies, congenital heart defects, hypotonia, and the absence of thrombocytopenia, who was found to have a 1.9Mb microdeletion within the Braddock-Carey contiguous deletion syndrome region. This deletion spares the RUNX1 gene, narrowing the genomic region responsible for a part of the Braddock-Carey syndrome phenotype. Further studies are awaited to understand the role of the genes located within 21q22 in the pathogenesis of Braddock-Carey syndrome.
KW - Agenesis of the corpus callosum
KW - Cleft palate
KW - Micrognathia
KW - Pierre Robin sequence
KW - Pulmonary hypertension
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U2 - 10.1002/ajmg.a.35368
DO - 10.1002/ajmg.a.35368
M3 - Article
C2 - 22614953
AN - SCOPUS:84862688381
SN - 1552-4825
VL - 158 A
SP - 1535
EP - 1541
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -