Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.
Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder of the central nervous system. Many cases of PMD can be attributed to defects in the proteolipid protein gene (PLP). To date, with one exception, each family has had either no or a unique mutation in one of the seven exons of PLP. We describe a new missense mutation in exon 2 of the PLP gene of an affected individual. This mutation codes for Ile instead of Thr at codon 42. The point mutation originated in the X chromosome of the maternal great-grandfather of the propositus. This was determined from the pattern of inheritance of the AhaII polymorphism and a series of microsatellite markers that are localized near PLP at Xq22.
Pratt
V M
VM
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
Boyadjiev
S
S
Green
K
K
Hodes
M E
ME
Dlouhy
S R
SR
D000328:Adult; D001483:Base Sequence; D017931:DNA Primers; D015252:Deoxyribonucleases, Type II Site-Specific; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005091:Exons; D005190:Family; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D007532:Isoleucine; D008297:Male; D008969:Molecular Sequence Data; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D013912:Threonine; D014960:X Chromosome
D017931:DNA Primers; D005819:Genetic Markers; D018991:Myelin Proteolipid Protein; D007532:Isoleucine; D013912:Threonine; D015252:Deoxyribonucleases, Type II Site-Specific; C052694:GRCGYC-specific type II deoxyribonucleases