Abstract:
:Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including congenital hydrocephalus, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and mental retardation. Inter- and intrafamilial variability is a well-known feature of the L1CAM spectrum, and several patients have a combination of L1CAM mutations and Hirschsprung's disease (HSCR). We report on two siblings with a missense mutation in exon 7 (p.P240L) of the L1CAM gene. In one of the siblings, congenital dislocation of the radial heads and HSCR were present. Neither patient had hydrocephalus, adducted thumbs, or absent speech, but both had a hypoplastic corpus callosum. We suggest that L1CAM mutation testing should be considered in male patients with a positive family history compatible with X-linked inheritance and either the combination of agenesis of the CC and HSCR or the combination of agenesis of the CC and limb abnormalities, including abnormalities other than adducted thumbs.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Basel-Vanagaite L,Straussberg R,Friez MJ,Inbar D,Korenreich L,Shohat M,Schwartz CEdoi
10.1111/j.1399-0004.2006.00607.xsubject
Has Abstractpub_date
2006-05-01 00:00:00pages
414-9issue
5eissn
0009-9163issn
1399-0004pii
CGE607journal_volume
69pub_type
杂志文章abstract::Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and t...
journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1999-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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更新日期:1994-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1977-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1982-01-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1987-03-01 00:00:00
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pub_type: 杂志文章
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更新日期:2018-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1976-02-01 00:00:00
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更新日期:1996-11-01 00:00:00