FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)

被引：54

作者：

Entesarian, Miriam

Dahlqvist, Johanna

Shashi, Vandana

Stanley, Christy S.

Falahat, Babak

Reardon, William

Dahl, Niklas

机构：

[1] Univ Uppsala Hosp, Dept Genet & Pathol, Clin Genet Unit, Rudbeck Lab, SE-75185 Uppsala, Sweden

[2] Wake Forest Univ, Dept Pediat Med Genet, Winston Salem, NC 27109 USA

[3] Inst Postgrad Dent Educ, Dept Maxillofacial Radiol, Jonkoping, Sweden

[4] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2007年 / 15卷 / 03期

关键词：

ALSG; LADD syndrome; FGF10; missense mutations;

D O I：

10.1038/sj.ejhg.5201762

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Aplasia of lacrimal and salivary glands (ALSG) is an autosomal dominant congenital anomaly characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems. Affected individuals present with irritable eyes and dryness of the mouth with variable expressivity. Mutations in FGF10 were recently described in ALSG and in lacrimo-auriculo-dento-digital (LADD) syndrome which are overlapping clinical entities. We present here two families with ALSG associated with missense mutations (R80S and G138E, respectively) affecting highly conserved residues in FGF10. The clinical features of these patients further broaden the knowledge of FGF10-related phenotypes.

引用

页码：379 / 382

页数：4

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