1994
DOI: 10.1111/j.1399-0004.1994.tb04019.x
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Clinical aspects of the MASA syndrome in a large family, including expressing females

Abstract: We have evaluated, both clinically and by linkage analysis, a large family with 22 known affected males with the MASA syndrome (McKusick 303300). Clinical findings varied widely amongst the affected family members, with some appearing initially to have the MASA syndrome and others to have X‐linked hydrocephalus (HSAS) (McKusick 307000). Important findings included the presence of adducted thumbs in two obligate carriers, learning problems or mild mental retardation in three females, two of whom were obligate c… Show more

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Cited by 49 publications
(10 citation statements)
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References 29 publications
(32 reference statements)
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“…Symptomatic female heterozygotes have been described for both AVPR2 and L1CAM mutations. The X-chromosome with the normal allele was found to be preferentially inactivated by methylation in the women with the disease phenotype [Kaepernick et al, 1994;Nomura et al, 1997;Kinoshita et al, 2004]. To our knowledge, the present patient is the only person described with a deletion of both L1CAM and AVPR2 with part of the ARHGAP4 gene.…”
Section: Discussionmentioning
confidence: 69%
“…Symptomatic female heterozygotes have been described for both AVPR2 and L1CAM mutations. The X-chromosome with the normal allele was found to be preferentially inactivated by methylation in the women with the disease phenotype [Kaepernick et al, 1994;Nomura et al, 1997;Kinoshita et al, 2004]. To our knowledge, the present patient is the only person described with a deletion of both L1CAM and AVPR2 with part of the ARHGAP4 gene.…”
Section: Discussionmentioning
confidence: 69%
“…Owing to the random inactivation of genes on the X chromosome, female carriers of L1 mutations are heterozygous at the level of the L1-expressing cells, in that each cell expresses either the normal or the mutated gene. In humans, heterozygous carriers (L1+/−) of the L1 syndrome usually show a mild phenotype, being thus very different from the severe symptoms of L1-deficient (L1-/y) males [13]. And in mice, contrary to what one would expect, heterozygous females show a complex set of morphological features that are not intermediate between wild-type (L1+/+) and fully L1-deficient (L1-/y) mice [14].…”
Section: Introductionmentioning
confidence: 82%
“…However, variable expressivity has been observed, even within families, with the most severe cases resulting in prenatal death and other cases presenting with mild ventricular enlargement compatible with long‐term survival [Finckh et al, ]. Female carriers of L1CAM mutations are typically asymptomatic; however, they may present with adducted thumbs, intellectual disability, or varying degrees of hydrocephalus [Kaepernick et al, ].…”
Section: Introductionmentioning
confidence: 99%