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GENATLAS PHENOTYPE

last update : 26-08-2010

Symbol	FFDD3
Location	2q37.3
Name	focal facial dermal dysplasia 3
Other name(s)	Setleis syndrome
Corresponding gene	TWIST2
Main clinical features	bilateral temporal marks and additional facial features, including an aged-leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and other nonfacial manifestations
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	other
Type	disease

Remark(s)

. homozygous nonsense mutations that affect TWIST2 protein stability and DNA binding, (Tukel 2010) C-terminal domain of TWIST2, which is missing in the Q119X mutant form of TWIST2, is responsible for proper transactivation of the periostin gene, and improper regulation of periostin by the mutant form of TWIST2 could help explain some of the soft tissue abnormalities seen in the patients (PMID: 21801849))