S A Wisniewski1, W H Trzeciak. 1. Faculty of Public Health WSPiA, 213-215, 28 Czerwca St, 61-485 Poznan, Poland.
Abstract
BACKGROUND: Mutations in the genes encoding components of the tumour necrosis factor (TNF)-α-like pathway cause hypohidrotic ectodermal dysplasia (HED). It has been postulated that the TNF receptor-associated factor 6 (TRAF6) is also involved in this pathway. OBJECTIVES: To investigate mutations in the TRAF6 gene in an individual with HED. METHODS: Genetic analysis was performed on TRAF6 in a patient with HED, her parents, her sister and 150 ethnically matched, healthy individuals. RESULTS: In the patient, sequencing analysis of one DNA strand revealed a deletion of eight nucleotides (c.1074-1081delCAATTTG) in the 5' fragment of the last exon of TRAF6, while no deletion was detected in the other DNA strand indicating a heterozygous mutation. No such sequence abnormality was detected in the patient's parents and her sister. CONCLUSION: This is the first report of a heterozygous TRAF6 sequence variant associated with symptoms typical of HED.
BACKGROUND: Mutations in the genes encoding components of the tumour necrosis factor (TNF)-α-like pathway cause hypohidrotic ectodermal dysplasia (HED). It has been postulated that the TNF receptor-associated factor 6 (TRAF6) is also involved in this pathway. OBJECTIVES: To investigate mutations in the TRAF6 gene in an individual with HED. METHODS: Genetic analysis was performed on TRAF6 in a patient with HED, her parents, her sister and 150 ethnically matched, healthy individuals. RESULTS: In the patient, sequencing analysis of one DNA strand revealed a deletion of eight nucleotides (c.1074-1081delCAATTTG) in the 5' fragment of the last exon of TRAF6, while no deletion was detected in the other DNA strand indicating a heterozygous mutation. No such sequence abnormality was detected in the patient's parents and her sister. CONCLUSION: This is the first report of a heterozygous TRAF6 sequence variant associated with symptoms typical of HED.
Authors: Rik Westland; Miguel Verbitsky; Katarina Vukojevic; Brittany J Perry; David A Fasel; Petra J G Zwijnenburg; Arend Bökenkamp; Johan J P Gille; Mirna Saraga-Babic; Gian Marco Ghiggeri; Vivette D D'Agati; Michiel F Schreuder; Ali G Gharavi; Joanna A E van Wijk; Simone Sanna-Cherchi Journal: Kidney Int Date: 2015-09-09 Impact factor: 10.612