X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency.

Filippi, Giorgio; Rinaldi, A; Crisponi, Guido; Daniels, G.L.; Siniscalco, M.

doi:10.1136/jmg.16.3.223

Cited by 11 publications

(6 citation statements)

References 3 publications

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“…HED was first reported in 1848 [Thurman, 1848;Weech, 1929;Christ, 1932;Siemens, 1937;Filippi et al, 1979]. In 1929, Weech observed gland dysfunction and coined the term "anhidrotic ectodermal dysplasia.…”

Section: Discussionmentioning

confidence: 99%

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

Savasta

Carlone

Castagnoli

et al. 2017

Cytogenet Genome Res

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We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

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Section: Discussionmentioning

confidence: 99%

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

Savasta

Carlone

Castagnoli

et al. 2017

Cytogenet Genome Res

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“…According to one report, the locus for G6PD has been assigned to the region distal to Xq26 11 and the AED locus was on Xq12-q13.1 5 . It has been postulated that the AED locus is nearer to the X chromosome centromere than G6PD 11 .…”

Section: Discussionmentioning

confidence: 99%

Hypohidrotic Ectodermal Dysplasia Associated with Glucose-6-Phosphate Dehydrogenase Deficiency

et al. 2011

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Hypohidrotic ectodermal dysplasia (HED) is a syndrome characterized by hypodontia, hypotrichosis, and partial or total ecrine sweat gland deficiency. The most prevalent form of HED is inherited as an X linked pattern. Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is an X-linked recessive disease, which leads to hemolytic anemia and jaundice. It is expressed in males, while heterozygous females are usually clinically normal. A 12-year-old boy with the complaints of hair and eyebrow disturbances, teeth disfigurement, decreased sweating, and xerosis presented to the outpatient clinic. Dermatological examination revealed sparse hair and eyebrows, conical-shaped teeth, xerosis, syndactylia, transverse grooves, and discoloration of nails. Laboratory findings indicated anemia. His 3-year-old sister also had sparse hair and eyebrows, xerosis, and syndactylia. We learned that the patient had a previous history of neonatal jaundice and a diagnosis of G-6-PD deficiency. Although it has been shown that loci of ectodermal dysplasia and G-6-PD deficiency genes are near to one another, we did not find any case study reporting on occurrence of these two genetic diseases together. With the aspect of this rare and interesting case, the relationship between HED and G-6-PD deficiency was defined.

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“…Although dominant inheritance could be claimed to explain this, the evidence for dominant mutation in this form of ectodermal dysplasia remains inconclusive." Inversions of chromosome 9 have been previously associated with a number of clinical problems but the relationship between these events is not clear.12 13 The pathogenic importance of the inversion is generally diminished by the fact that most carriers appear free of clinical manifestations.3…”

Section: Discussionmentioning

confidence: 99%

“…This subject did not sweat and his dentition 752*1* 1*6 7 was as follows: 3* . His karyotype was 3* 3* 46,XY,inv (9). CASE 3 This female (III-4) was first seen by us at the age of 17.…”

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confidence: 98%

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Ectodermal dysplasia in females and inversion of chromosome 9.

Fuenmayor¹,

Roldan-París²,

Bermúdez³

1981

Journal of Medical Genetics

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SUMMARY Absence of sweat glands, hypotrichosis, hypodontia, characteristic facial features, and intolerance to heat, without dystrophia of the nails, are manifestations of sex linked hypohydrotic ectodermal dysplasia. Three males and two females were affected in a family in which the affected females were also carrying a pericentric inversion of chromosome 9. Those phenotypically normal females in this pedigree who were obligate carriers had normal karyotypes. One of the affected females (the proband) had, in addition, primary amenorrhoea, absence of thle mammary glands, and rudimentery internal genitalia.The fact that the clinical manifestations of ectodermal dysplasia in the carrier females of this family are only observed in those also carrying a pericentric inversion of chromosome 9 in peripheral blood leucocytes perhaps suggests that non-random inactivation of the paternal X chromosome has occurred as a consequence of the inversion.Anhidrotic ectodermal dysplasia or, more cautiously, hypohydrotic ectodermal dysplasia, is a well known syndrome. Several variant forms have been described, characterised by the presence of associated findings and different modes of inheritance.' The most common X linked form is characterised by severe affection of the males with occasional minor manifestations in heterozygous females. Severe manifestations in females have been reported and explained by the unproved possible presence of a double dose of the gene.2 Pericentric inversion of chromosome 9 (inv 9) has been considered to be a non-harmful polymorphism3 with certain reservations.4 The incidence of this polymorphism varies with races but is generally around 1.5%.3We report an unusual kindred in which several males exhibit typical anhidrotic ectodermal dysplasia, and in which in two sisters this condition occurs in association with a pericentric inversion of chromosome 9. Case reports CASE IThis patient (fig 1) was referred to us at the age of 19 because of the absence of secondary sexual character-*Present address:

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X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency.

Cited by 11 publications

References 3 publications

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel <b><i>EDA</i></b> Gene Mutation

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel <b><i>EDA</i></b> Gene Mutation

Hypohidrotic Ectodermal Dysplasia Associated with Glucose-6-Phosphate Dehydrogenase Deficiency

Ectodermal dysplasia in females and inversion of chromosome 9.

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