Male pseudohermaphroditism, partial androgen receptors defect, 11p13 deletion: Indication of gene localization

Malpuech, G; Sultan, Charles; Bertheas, M. F.; Loire, Corinne; H, Renaud; Francannet, Christine; Vanlieferinghen, P; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320240412

Cited by 9 publications

(4 citation statements)

References 16 publications

(7 reference statements)

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“…Although there may be a variety of clinical presentations associated with deletions of the PAX6 and WT1 genes respectively, the pattern of malformations described in these three cases are rarely observed in WAGR cases. Indeed, we are only aware of one published patient with thumb duplication [Malpuech et al, 1986] We confirm here that preaxial anomalies may be present in WAGR deletion. The genetic basis of mental retardation in WAGR remains to be explained.…”

Section: Discussionsupporting

confidence: 85%

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

Brémond‐Gignac¹,

Gérard-Blanluet²,

Copin³

et al. 2005

American J of Med Genetics Pt A

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The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental retardation which is invariably associated with an 11p13 deletion. We report two monozygotic twins and a third, unrelated patient with WAGR syndrome and additional clinical features not usually associated with WAGR. Both twins had developmental delay, growth deficiency, severe ocular involvement (nystagmus, aniridia, cataracts), atrial septal defect and two uncommon findings: agenesis of the corpus callosum and duplication of the halluces. One twin developed Wilms tumors aged 19 months while her sister remained tumor free by the age of 6.5 years. The singleton patient showed typical WAGR syndrome and preaxial hallucal polydactyly. Molecular cytogenetic studies refined the identification of the extent of the deleted segments, which were not identical in the two families. The two deletions included the PAX6 and WT1 genes as previously reported in typical WAGR patients. The unusual anomalies described in this report, may represent the expression of low penetrant traits associated with haploinsufficency of one or more of the genes present in the deletion (PAX6 is expressed in CNS) or may indicate epistatic influences of modifier genes on the expression of gene(s) present in the WAGR region.

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Section: Discussionsupporting

confidence: 85%

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

Brémond‐Gignac¹,

Gérard-Blanluet²,

Copin³

et al. 2005

American J of Med Genetics Pt A

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“…Polydactyly has been extensively observed in combination with other recognizable syndromes [Biesecker, 2002], but to the best of our knowledge, the association with WAGR was previously reported in a single instance only [Malpuech et al, 1986]. The authors reported on a boy with male pseudohermaphroditism, facial dysmorphisms, and bilateral aniridia, who developed WT at age 2 years.…”

Section: Discussionmentioning

confidence: 96%

Bilateral preaxial polydactyly in a WAGR syndrome patient

Manoukian

Crolla

Mammoliti

et al. 2005

American J of Med Genetics Pt A

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We report on a 30-month-old baby girl with typical clinical features of WAGR syndrome. In addition, the patient showed bilateral preaxial polydactyly of the feet. Cytogenetic and fluorescent in situ hybridization (FISH) analyses identified a deletion, del(11)(p13p14.1), extending from 6.1 to 21.7 Mb in size. Although the simultaneous appearance of WAGR and polydactyly has been already described, to our knowledge this is the first case in which the characterization at the cytogenetic molecular level of a patient with these phenotypes is reported. These observations indicate that preaxial polydactyly may be another feature of the WAGR syndrome and suggest the existence of a related gene in the WAGR critical region or in its proximity.

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“…In particular, there must be recognition of the risk that male pseudohermaphroiditism and other intersex phenotypes represent for renal failure and WT 1221. Androgen receptor deficiency has been reported in an individual with DDS [43] and an individual with WAGR del( 1 lp13) [44]. Therefore, the index of suspicion for either disorder must remain high even if an apparent etiology for ambiguous genitalia is found.…”

Section: Genital Malformationsmentioning

confidence: 99%

Clinical phenotypes and Wilms tumor

Clericuzio

1993

Med. Pediatr. Oncol.

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Wilms tumor can occur in association with a number of recognizable patterns of malformation, as first described by Miller et al. in 1964. This paper represents a synthesis of the current state of knowledge regarding recognizable phenotypes associated with Wilms tumor. Specific disorders discussed include the Beckwith-Wiedemann syndrome, which has been localized to 11p15.5; isolated hemihypertrophy; sporadic aniridia, which is almost always associated with del(11p13); genital anomalies, particularly male pseudohermaphroditism and the Denys-Drash syndrome; and more weakly associated or uncommon conditions, such as neurofibromatosis and Perlman syndrome, respectively. Wilms tumor (WT) surveillance for specific high risk phenotypes should include a rational schedule of abdominal ultrasound examinations, taking into account the epidemiology of WT associated with specific disorders. Physical examination, with emphasis on abdominal palpation, and urinalysis should also be performed on a rational schedule. The schedule of examinations needs to be arrived at with input from clinical geneticists, oncologists, epidemiologists and pathologists with WT expertise. Lastly, care-takers of high risk individuals should be taught abdominal palpation, to be performed daily at home.

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Male pseudohermaphroditism, partial androgen receptors defect, 11p13 deletion: Indication of gene localization

Abstract: A partial androgen receptor defect was found in a boy with male pseudohermaphroditism and an 11p13 deletion. We hypothesize that a gene responsible for the function or structure of androgen receptors might be localized in the 11p13 band or in close proximity to it.

Cited by 9 publications

References 16 publications

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

Bilateral preaxial polydactyly in a WAGR syndrome patient

Clinical phenotypes and Wilms tumor

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