title: Phenotype-genotype correlation in two patients with 12q proximal deletion.
abstract: Proximal 12q deletion is a very rare chromosomal abnormality. Only five cases have been reported. Among the five, an Argentinian patient (Case 1) with del(12)(q11q13) and a Japanese patient (Case 2) with del(12)(q12q13.12) were analyzed because they shared several clinical features: growth and psychomotor developmental delay; strabismus; broad and short nose with anteverted nostrils; high, arched palate; large, lowset ears; widely set nipples; short fingers and clinodactyly of fifth fingers; and abnormality of the second and third toes. To clarify the correlation between the deleted genes and their phenotypes, we delimited their deleted regions by fluorescence in situ hybridization (FISH). The overlapped region in the deletions spanned 6.2 Mb where at least 15 genes were predicted to localize on the current human genome database. Among them, YAF2 and AMIGO2 were the most plausible candidates to affect growth and psychomotor retardation, respectively, in both cases. Regarding unique symptoms in each case, congenital fibrosis of the extraocular muscles found only in Case 1 may be caused by KIF21A deletion and hearing loss and cleft palate in Case 2 by COL2A1 defect.
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Tonoki
authors.forename: Marta
authors.initials: M
authors.lastname: Gallego
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Osamu
authors.initials: O
authors.lastname: Shimokawa
authors.forename: Koh-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Tohru
authors.initials: T
authors.lastname: Ohta
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Kishino
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002972:Cleft Palate / Q000473:pathology; D024043:Collagen Type II / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005838:Genotype; D034381:Hearing Loss / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D016547:Kinesins / Q000235:genetics; D009124:Muscle Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II; D004268:DNA-Binding Proteins; C119023:KIF21A protein, human; C485598:Kif21a protein, mouse; D009124:Muscle Proteins; D009419:Nerve Tissue Proteins; D012097:Repressor Proteins; C104531:YAF2 protein, human; C484486:Yaf2 protein, mouse; D016547:Kinesins