Agenesis of the corpus callosum in a mother and son

Inbar, Dov; Halpern, Gabrielle J.; Weitz, Raphael; Sadeh, Michelle; Shohat, Mordechai

doi:10.1002/(sici)1096-8628(19970317)69:2<152::aid-ajmg6>3.0.co;2-r

Cited by 5 publications

(3 citation statements)

References 11 publications

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“…The incidence of corpus callosum agenesia is increased in patients with chromosomal abnormality. Several familial cases have been reported so far [1][2][3][4][5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Unusual Clinical History of a Male Infant with Edwards Syndrome

Surányi

Bito

Vajda

et al. 2008

Pathol. Oncol. Res.

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Edwards syndrome (trisomy of chromosome 18) is generally characterized by the disorders of central nervous system, as well as the musculoskeletal and genitourinary systems. In majority of the cases with trisomy 18 the following malformations can be found: ventricular septal defect, horseshoe kidneys, oesophageal atresia, omphalocele, facial clefts, diaphragmatic hernias and genital hypoplasia. We report a male patient with Edwards syndrome. The boy had a partial agenesis of corpus callosum, oesophageal atresia with tracheo-oesophageal fistula, renal agenesis, ventricular septal defect, Dandy-Walker cyst and low-set malformed ears. The first three features are unique based on previous literature reports on trisomy 18. This report allows a further delineation of the trisomy 18 syndrome.

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“…The incidence of corpus callosum agenesia is increased in patients with chromosomal abnormality. Several familial cases have been reported so far [1][2][3][4][5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Unusual Clinical History of a Male Infant with Edwards Syndrome

Surányi

Bito

Vajda

et al. 2008

Pathol. Oncol. Res.

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“…Investigations into the genetic cause of ACC have demonstrated evidence of linkage to 12 genomic loci (O’Driscoll et al, 2010). ACC typically is associated with an autosomal recessive or an X-linked recessive inheritance, although autosomal dominant inheritance has been reported (Inbar et al, 1997). While a variety of ocular abnormalities have been previously associated with various syndromes that arise from an abnormally developed CC, such as Aicardi Syndrome, Septo-optic Dysplasia, Mowat-Wilson Syndrome, and Menkes Syndrome, none have previously included an inherited disorder of the cornea (Ariss et al, 2012; Ferreira et al, 1998; Fruhman et al, 2012; Goyal, Watts, & Hourihan, 2010; Masri et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum

et al. 2014

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Posterior polymorphous corneal dystrophy (PPCD) is a dominantly inherited disorder of the corneal endothelium that has been associated with mutations in the zinc-finger E-box binding homeobox 1 gene (ZEB1) gene in approximately one-third of affected families. While the corneal dystrophies have traditionally been considered isolated disorders of the corneal endothelium, we have recently identified two cases of maldevelopment of the corpus callosum in unrelated individuals with PPCD. The proband of the first family was diagnosed shortly after birth with agenesis of the corpus callosum and several other developmental abnormalities. Karyotype, FISH and whole genome copy number variant analyses were normal. She was subsequently diagnosed with PPCD, prompting screening of the ZEB1 gene, which identified a novel deletion (c.449delG; p.(Gly150Alafs*36)) present in the heterozygous state that was not identified in either unaffected parent. The proband of the second family was diagnosed several months after birth with thinning of the corpus callosum and PPCD. Whole genome copy number variant analysis revealed a 1.79 Mb duplication of 17q12 in the proband and her father and brother, neither of whom had PPCD. ZEB1 sequencing identified a novel deletion (c.1913-1914delCA; p.(Ser638Cysfs*5)) present in the heterozygous state, which was also identified in the proband’s affected mother. Thus, we report the first two cases of the association of PPCD with a developmental abnormality of the brain, in this case maldevelopment of the corpus callosum. Keywords: agenesis, corpus callosum, PPCD3, ZEB1, ZEB2, corneal dystrophy

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“…However, familial cases without known malformation syndromes are rare. The mode of inheritance are autosomal recessive (MIM# 217990) (Naiman and Fraser, 1955;Shapira and Cohen, 1973;Pineda et aL, 1984;Young et al, 1985), autosomal dominant (Lynn et aL, 1980;Inbar et aL, 1997), and X-linked recessive (MIM# *314100) (Menkes et al, 1964;Kaplan, 1983;Wilson et al, 1983;Kang et al, 1992).…”

Section: Introductionmentioning

confidence: 99%