title: Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium.
abstract: We describe a newborn infant with del(1)(q) syndrome, presenting with rare congenital cardiomyopathy and left ventricular noncompaction myocardium (LVNC), as well as typical clinical features such as facial dysmorphism and psychomotor retardation. Although conventional chromosome banding at 850 bands per haploid set indicated a karyotype of 46,XX,add(1)(q42.3), FISH analysis confirmed that the deleted portion was limited to within q43, and q44 was preserved. Therefore, the chromosome constitution is 46,XX,del(1)(q43q43), which has not previously been reported in the literature. Screening for the mutations in the candidate genes for LVNC, i.e. G4.5, CSX, Dystrobrevin, FKBP12, and Desmin, produced negative results. Interestingly, the deleted portion includes the locus for the cardiac ryanodine receptor type 2 gene (RyR2), that selectively binds to the FKBP12 homolog, FKBP12.6. The relationship between this rare myocardial abnormality and deletion of q43 is currently unknown and awaits further accumulation of cases with the same chromosomal aberration.
authors.affiliation: Department of Pediatrics, Institute of Ibaraki Seinan Medical Center Hospital, Sakai 2190, Sashima 306-0433, Ibaraki, Japan. md005397@yahoo.co.jp
authors.forename: Nobuko
authors.initials: N
authors.lastname: Kanemoto
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Horigome
authors.forename: Junko
authors.initials: J
authors.lastname: Nakayama
authors.forename: Fukiko
authors.initials: F
authors.lastname: Ichida
authors.forename: Yanlin
authors.initials: Y
authors.lastname: Xing
authors.forename: Antonia Lucia
authors.initials: AL
authors.lastname: Buonadonna
authors.forename: Katsuyoshi
authors.initials: K
authors.lastname: Kanemoto
authors.forename: Mattia
authors.initials: M
authors.lastname: Gentile
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D009202:Cardiomyopathies / Q000151:congenital* / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel