title: p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities.
abstract: Hutchinson-Gilford progeria syndrome (HGPS) is a typical presenile disorder, with mutation in the LMNA gene. Besides HGPS, mutations in LMNA gene have also been reported in atypical progeroid syndrome (APS). The objective of the study was to investigate the phenotype and molecular basis of APS in a Chinese family. LMNA gene mutations were also reviewed to identify the phenotypic and pathogenic differences among APS. Two siblings in a non-consanguineous Chinese family with atypical progeria were reported. The clinical features were observed, including presenile manifestations such as bird-like facial appearance, generalized lipodystrophy involving the extremities and mottled hyperpigmentation on the trunk and extremities. A heterozygous mutation c.11C>G (p.Pro4Arg) of the LMNA gene was detected in the two patients. 28 different variants of the LMNA gene have been reported in APS families, spreading over almost all the 12 exons of the LMNA gene with some hot-spot regions. This is the first detailed description of an APS family without metabolism abnormalities. APS patients share most of the clinical features, but there may be some distinct features in different ethnic groups.
authors.affiliation: Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University, Chongqing 400038, PR China.
authors.forename: Hong
authors.initials: H
authors.lastname: Guo
authors.affiliation: Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing 400038, PR China.
authors.forename: Na
authors.initials: N
authors.lastname: Luo
authors.affiliation: Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing 400038, PR China. Electronic address: swderma@126.com.
authors.forename: Fei
authors.initials: F
authors.lastname: Hao
authors.affiliation: Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University, Chongqing 400038, PR China. Electronic address: geneticsby@gmail.com.
authors.forename: Yun
authors.initials: Y
authors.lastname: Bai
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D005091:Exons; D005145:Face / Q000002:abnormalities; D005260:Female; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011371:Progeria / Q000209:etiology / Q000235:genetics* / Q000378:metabolism*; D035781:Siblings; D055815:Young Adult
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A
keywords: Atypical progeroid syndrome (APS); Hutchinson–Gilford progeria syndrome (HGPS); Lamin A/C (LMNA); Mutation; Progeria