Genetics of human isolated acromesomelic dysplasia

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• 作者：Saadullah Khan^a ; ^b ; ^{saadkhanwazir@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Sulman Basit^c ; Muzammil Ahmad Khan^b ; ^e ; Noor Muhammad^a ; Wasim Ahmad^d
• 关键词：Acromesomelic dysplasia ; Clinical spectrum ; GDF5 ; NPR2 ; BMPR1B ; Disease causing mutations
• 刊名：European Journal of Medical Genetics
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：59
• 期：4
• 页码：198-203
• 全文大小：965 K

文摘

Acromesomelic dysplasia is a type of skeletal malformation affecting distal and middle segments of the extremities. It occurs in both isolated (non-syndromic) and syndromic forms. In later case, it shows association with cardiac, respiratory, neurological and genital abnormalities. Acromesomelic dysplasia segregates in autosomal recessive mode. Mutations in three genes (GDF5, NPR2, BMPR1B) have been reported to cause different forms of acromesomelic dysplasia.

In the present review, we have discussed clinical spectrum, genetics and signalopathies of isolated acromesomelic dysplasias.