Clinical and genetic analysis of a child with X-linked hypohidrotic ectodermal dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 469-471, 2021.
Article
Dans Chinois
| WPRIM
| ID: wpr-879605
ABSTRACT
OBJECTIVE@#To explore the clinical and genetic characteristics of a child with X-linked hypohidrotic ectodermal dysplasia (XLHED).@*METHODS@#Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents with informed consent and subjected to copy number variation (CNV) analysis and whole exome sequencing (WES).@*RESULTS@#The male infant manifested sparse hair, anhidrosis, anuresis due to polycystic kidney dysplasia, external genital malformation and anal atresia. WES has revealed a 406 bp hemizygous deletion at Xq13 (68 836 147-68 836 553) in the proband, which encompassed exon 1 of the EDA gene. A heterozygous deletion at the same site was detected in the mother, while no deletion or duplication of the site was detected in the father.@*CONCLUSION@#The hemizygous deletion of EDA gene exon 1 probably underlay the ectodermal dysplasia in the proband. Above result has provided a basis for genetic counseling and prenatal diagnosis for the family.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Dysplasie ectodermique
/
Dépistage génétique
/
Dysplasie ectodermique anhidrotique de type 1
/
Ectodysplasines
/
Variations de nombre de copies de segment d'ADN
Type d'étude:
Étude pronostique
Limites du sujet:
Enfant
/
Humains
/
Bébé
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2021
Type:
Article
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