An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.
The proteolipid protein 1 gene (PLP1) is located on chromosome Xq22.2 and is related to X-linked recessive leukoencephalopathy (Pelizaeus-Merzbacher disease: PMD). Compared to PLP1 duplications, which are a major contributor to PMD, chromosomal deletions in this region are rare and only a few PMD patients with small deletions have been reported, suggesting that large deletions of this region would cause embryonic lethality. Previously, we have reported female patients, with chromosomal deletions in this region, who showed severe developmental delays and behavioral abnormalities. In this study, we identified the first case of a male patient associated with an Xq22 nullisomy in a region proximal to PLP1. The patient showed severe neurological impairment and was bedridden. Brain magnetic resonance imaging revealed a severely reduced cerebral volume. The chromosomal region proximal to PLP1 was considered to be significantly important for brain development.
Department of Pediatrics, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
Kentaro
K
Shirai
Department of Neonatology, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
Yuya
Y
Higashi
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.|Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
Keiko
K
Shimojima
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.|Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
Toshiyuki
T
Yamamoto
D001483:Base Sequence; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000737:chemistry*; D015870:Gene Expression; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics; D059906:Neuroimaging; D020371:Pelizaeus-Merzbacher Disease / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D017384:Sequence Deletion
D018991:Myelin Proteolipid Protein; C472930:PLP1 protein, human
NGFRAP1; brain expressed X-linked; embryonic lethality; microarray; neurotrophin; p75