TY - JOUR
T1 - Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome
AU - Tanteles, George A.
AU - Nicolaou, Nayia
AU - Syrimis, Andreas
AU - Metaxa, Rafaella
AU - Nicolaou, Michael
AU - Christophidou-Anastasiadou, Violetta
AU - Skordis, Nicos
PY - 2017
Y1 - 2017
N2 - Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression. We report a family (twin brothers and their father) affected with UMS because of a novel TBX3 mutation. The twin brothers showed classical features of UMS, whereas their father was mildly affected. The c.1423C > T (p.Q475∗ense mutation in exon 6 of the TBX3 gene identified in the patients by targeted Sanger sequencing is predicted to lead to premature termination of translation. This is the first report of a Cypriot family with UMS resulting from a novel TBX3 mutation. This report provides additional evidence in support of the rich variability in phenotypic expression, the mutational heterogeneity and ethnic diversity associated with this rare condition.
AB - Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression. We report a family (twin brothers and their father) affected with UMS because of a novel TBX3 mutation. The twin brothers showed classical features of UMS, whereas their father was mildly affected. The c.1423C > T (p.Q475∗ense mutation in exon 6 of the TBX3 gene identified in the patients by targeted Sanger sequencing is predicted to lead to premature termination of translation. This is the first report of a Cypriot family with UMS resulting from a novel TBX3 mutation. This report provides additional evidence in support of the rich variability in phenotypic expression, the mutational heterogeneity and ethnic diversity associated with this rare condition.
KW - Cyprus
KW - novel TBX3
KW - ulnar-mammary syndrome
UR - http://www.scopus.com/inward/record.url?scp=85011279084&partnerID=8YFLogxK
U2 - 10.1097/MCD.0000000000000170
DO - 10.1097/MCD.0000000000000170
M3 - Article
C2 - 28145909
AN - SCOPUS:85011279084
SN - 0962-8827
VL - 26
SP - 61
EP - 65
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
IS - 2
ER -