Walker‐Warburg syndrome: Report of three affected sibs

Rodgers, Benjamin L.; Vanner, Lauren V.; Pai, G. Shashidhar; Sens, Mary Anne

doi:10.1002/ajmg.1320490207

Cited by 29 publications

(13 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…G.S. Pai kindly submitted autopsy microslides from a reported fetal case [28]. We observed gonadoblastoid testicular dysplasia in the submitted testis slide.…”

Section: Addendummentioning

confidence: 80%

Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome

et al. 1998

View full text Add to dashboard Cite

Two male fetuses (18 and 22 weeks gestation) and a 3-month-old male infant (full sibling of the younger fetus) who were diagnosed with Walker-Warburg syndrome (WWS) on the basis of neuropathologic autopsy findings in brain, eyes, and muscle also had micro-orchia and, microscopically, diffuse gonadoblastoid dysplasia in the testes. Both fetuses also had a miniature left ureter and cystic dysplastic left kidney. Testes from control fetuses of 17-24 weeks gestation with normal karyotype and no central nervous system abnormalities (group A, n = 50), a variety of central nervous system abnormalities (group B, n = 50), or an autosomal aneuploidy syndrome with or without central nervous system abnormalities (group C, n = 30) had no diffuse dysplasia, although a single gonadoblastoid seminiferous tubular profile was present in three controls. Testicular morphology was normal in older fetuses and infants with a wide variety of central nervous system malformations (group D, n = 50). We found no evidence of hypogonadotrophic hypogonadism in the three WWS cases to account for the small penis and incompletely descended testes commonly reported in this condition. We concluded that the apparent specificity of the gonadoblastoid testicular dysplasia to WWS suggests that the gene defect directly affects testicular development.

show abstract

“…G.S. Pai kindly submitted autopsy microslides from a reported fetal case [28]. We observed gonadoblastoid testicular dysplasia in the submitted testis slide.…”

Section: Addendummentioning

confidence: 80%

Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome

et al. 1998

View full text Add to dashboard Cite

show abstract

“…Twenty-seven of the thirty patients in this study were reported to have all of these findings as well as one or more of the following: cerebellar hypoplasia (25), brainstem hypoplasia (21), agenesis of the corpus callosum (22), agenesis of the septum pellucidum (14), interhemispheric fusion (11), and the presence of an encephalocele (7). One family (family 1) has been described in a previous study [Rodgers et al, 1994].…”

Section: Methodsmentioning

confidence: 98%

Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome

et al. 2005

View full text Add to dashboard Cite

Walker-Warburg syndrome (WWS) is an autosomal recessive disorder of infancy characterized by hydrocephalus, agyria, retinal dysplasia, congenital muscular dystrophy, and over migration of neurons through a disrupted pial surface resulting in leptomeningeal heterotopia. Although previous work identified mutations in the o-mannosyl transferase, POMT1, in 6 out of 30 WWS families [Beltran-Valero de Bernabe et al., 2002], the incidence of POMT1 mutations in WWS is not known. We sequenced the entire coding region of POMT1 in 30 consecutive, unselected patients with classic WWS. Two novel heterozygous mutations were found in two patients from non-consanguineous parents, whereas 28 other patients failed to show any POMT1 mutations. One patient was found to be heterozygous for a transition, g.1233T > A, which predicts p.Y352X. A second patient was found also to be heterozygous for a transition g.1790C > G, which predicts p.S537R. As an additional determination of the frequency of the POMT1 mutations in WWS, we tested for linkage of WWS to POMT1 in six consanguineous families. All six demonstrated heterozygosity and negative LOD scores at the POMT1 locus. From these data we show that POMT1 is an uncommon cause of WWS, the incidence of coding region mutations in this population of WWS being less than 7%. We conclude that while the incidence of POMT1 mutations in WWS can be as high as 20% as reported by Beltran-Valero de Bernabe et al. [2002] and it can be as low as approximately 7%, as reported here.

show abstract

“…OE is a characteristic manifestation in some MCA syndromes, including Meckel and Walker-Warburg syndromes. In some families, one affected sib with these syndromes had OE, and another one had hydrocephaly [Anderson, 1982;Rodgers et al, 1994]. If so, OE and hydrocephaly may be different manifestations of the same embryonal abnormality.…”

Section: David-o'callaghan Syndrome Vonmentioning

confidence: 99%

VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community

Lurie

Ferencz

1997

Am. J. Med. Genet.

View full text Add to dashboard Cite

Phenotypic manifestations of the autosomal recessive form of VACTERL-hydrocephaly syndrome (David-O'Callaghan syndrome) and the X-linked recessive form (Hunter-MacMurray) syndrome are almost identical. The absence of cardiovascular malformations in cases with undoubtedly X-linked inheritance may be the only exception. The comparison of patients with David-O'Callaghan syndrome and nonclassified sporadic cases of VACTERL-hydrocephaly showed two marked differences. First, radial involvement (usually bilateral) occurred in all familial but only in 22 of 36 sporadic cases. Therefore, radial noninvolvement may be evidence against a genetic origin of the complex in a sporadic case. Second, predominantly severe forms of cardiovascular malformations were found in cases of David-O'Callaghan syndrome, whereas in sporadic cases almost all cardiovascular malformations were simple defects with minimal, if any, hemodynamic disturbances. The similarity of the spectrum and frequency of main manifestations of David-O'Callaghan and von Voss-Cherstvoy syndromes allows us to think that both of these syndromes actually might be 2 forms of one genetic entity. There are some syndromes with abnormalities of the brain (different for each syndrome) sharing the same limb defects (mainly preaxial), congenital heart defects, abnormalities of kidneys, and anal atresia/ectopia. Baller-Gerold syndrome, Steinfeld syndrome, XK-aprosencephaly, and DK-phocomelia (von Voss-Cherstvoy) syndrome as well as Mendelian forms of VACTERL-hydrocephaly syndromes fit into this "cerebro-cardio-radio-reno-rectal community."

show abstract

Walker‐Warburg syndrome: Report of three affected sibs

Cited by 29 publications

References 8 publications

Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome

Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome

Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome

VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community

Contact Info

Product

Resources

About