title: Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.
abstract: We report a case of segmental uniparental maternal hetero- and isodisomy involving the whole of chromosome 6 (mat-hUPD6 and mat-iUPD6) and a cullin 7 (CUL7) gene mutation in a Japanese patient with 3M syndrome. 3M syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation that was recently reported to involve mutations in the CUL7 or obscurin-like 1 (OBSL1) genes. We encountered a patient with severe growth retardation, an inverted triangular gloomy face, an inverted triangle-shaped head, slender long bones, inguinal hernia, hydrocele testis, mild ventricular enlargement, and mild mental retardation. Sequence analysis of the CUL7 gene of the patient revealed a homozygous missense mutation, c.2975G>C. Genotype analysis using a single nucleotide polymorphism array revealed two mat-hUPD and two mat-iUPD regions involving the whole of chromosome 6 and encompassing CUL7. 3M syndrome caused by complete paternal iUPD of chromosome 6 involving a CUL7 mutation has been reported, but there have been no reports describing 3M syndrome with maternal UPD of chromosome 6. Our results represent a combination of iUPDs and hUPDs from maternal chromosome 6 involving a CUL7 mutation causing 3M syndrome.
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Sasaki
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.forename: K
authors.initials: K
authors.lastname: Kosaki
authors.forename: T
authors.initials: T
authors.lastname: Yorifuji
authors.forename: O
authors.initials: O
authors.lastname: Shimokawa
authors.forename: H
authors.initials: H
authors.lastname: Mishima
authors.forename: K-i
authors.initials: KI
authors.lastname: Yoshiura
authors.forename: N
authors.initials: N
authors.lastname: Harada
mesh_terms: D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D044842:Cullin Proteins / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D020125:Mutation, Missense; D013131:Spine / Q000002:abnormalities; D024182:Uniparental Disomy / Q000235:genetics*
chemical_list: C506299:CUL7 protein, human; D044842:Cullin Proteins