Familial syndrome resembling Aarskog syndrome.
Aarskog(-Scott) syndrome (AAS) is characterized by short stature, and facial, limb, and genital anomalies. AAS can be an X-linked condition caused by mutations in the FGD1 gene, but there is evidence that an autosomal dominant or recessive form also exists. We report on a Chinese family in whom several members have manifestations of AAS, but differ in limb anomalies and show additional characteristics. FGD1 sequencing and linkage analysis excluded FGD1 as the cause in this family. A common known submicroscopic chromosome imbalance is less likely. Both autosomal dominant and recessive patterns of inheritance remain possible.
Xu
Mingzhi
M
Department of Endocrinology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Qi
Ming
M
Zhou
Huali
H
Yong
Jing
J
Qiu
Huiqing
H
Cong
Peikuan
P
Hong
Xutao
X
Li
Chengjiang
C
Jiang
Yan
Y
Chen
Xiao
X
Yu
Yunsong
Y
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors