Combined genetic and imaging diagnosis for two large  Chinese families affected with Pelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked  recessive disorder characterized by nystagmus, impaired motor development,  ataxia, and progressive spasticity. Genetically defective or altered levels of  proteolipid protein (PLP1) or gap-junction alpha protein 12 gene have been  found to be a common cause. Here we report on two large Han Chinese families  affected with this disease. The probands of both families had produced sons  featuring cerebral palsy that had never been correctly diagnosed. PMD was  suspected after careful analysis of family history and clinical features. Three  rounds of molecular testing, including RT-PCR, genetics linkage and SRY sequence  analyses, in combination with fetal ultrasound and magnetic resonance imaging,  confirmed the diagnosis. In Family 1, in addition to two patients, three  carriers were identified, including one who was not yet married. Genetic  testing indicated that a fetus did not have the disease. A healthy girl was  born later. In Family 2, two patients and two carriers were identified, while a  fetus was genetically normal. A healthy girl was born later. We concluded that  by combining genetic testing and imaging, awareness of the symptoms of PMD and  understanding of its molecular biology, there is great benefit for families  that are at risk for producing offspring affected with this severe disease.
Department of Medical Genetics, School of Basic Medicine, China Medical University, Shenyang, China.
Y
Y
Lv
L H
LH
Cao
H
H
Pang
L N
LN
Lu
J L
JL
Li
Y
Y
Fu
S L
SL
Qi
Y
Y
Luo
J
J
Li-Ling
D044466:Asian People / Q000235:genetics*; D002648:Child; D002681:China; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D010375:Pedigree; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis* / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D051876:Sex-Determining Region Y Protein / Q000235:genetics
C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein