A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD.
BACKGROUND
Hypohidrotic ectodermal dysplasia is a genetic disorder characterized by diminished or a lack of sweating, congenital missing teeth, and sparse or absent hair. Three genes, EDA, EDAR, and EDARADD, all related to tumor necrosis factor signaling, have been reported as responsible genes for this disorder. Among them, the largest numbers of mutations have been identified in EDA, and only two mutations identified in EDARADD.


METHODS
DNA analysis of EDA, EDAR, and EDARADD was performed on a Mongolian patient by polymerase chain reaction-direct sequencing.


RESULTS
The 5-year-old Mongolian individual had no erupted deciduous or permanent teeth. A panoramic radiograph showed only one tooth in the right mandible. His hair and eyebrows were sparse, but he did not have a short stature. He showed diminished sweating. The nails of his fingers and toes were normal. Based on these conditions, he was diagnosed with hypohidrotic ectodermal dysplasia. There was no gene mutation of EDA or EDAR. A novel heterozygous variant (P121S; c.361C>T) was identified in the death domain of EDARADD (NM_080738). No other member of his family was affected, and this variant was not identified in his parents or maternal grandparents.


CONCLUSIONS
This study reports an individual affected with hypohidrotic ectodermal dysplasia with a novel heterozygous P121S variant in the death domain of EDARADD.
Suda
N
N
Maxillofacial Orthognathics, Division of Maxillofacial/Neck Reconstruction, Department of Maxillofacial Reconstruction and Function, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan. n-suda.mort@tmd.ac.jp
Bazar
A
A
Bold
O
O
Jigjid
B
B
Garidkhuu
A
A
Ganburged
G
G
Moriyama
K
K
D000848:Anodontia / Q000209:etiology / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D004200:Diseases in Twins; D053360:Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / Q000150:complications / Q000235:genetics*; D053362:Edar-Associated Death Domain Protein / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide
D053362:Edar-Associated Death Domain Protein