Clinical Notes
Novel heterozygous frameshift mutation in distal-less homeobox 5 underlies isolated split hand/foot malformation type 1
Asmat Ullah,
Asmat Ullah
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
Search for more papers by this author Muhammad Farhat Ullah,
Muhammad Farhat Ullah
Department of Bioinformatics and Biotechnology, International Islamic University Islamabad, Islamabad, Pakistan
Search for more papers by this author Zafar Mahmood Khalid,
Zafar Mahmood Khalid
Department of Bioinformatics and Biotechnology, International Islamic University Islamabad, Islamabad, Pakistan
Search for more papers by this author Wasim Ahmad,
Corresponding Author
Wasim Ahmad
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
Correspondence: Wasim Ahmad PhD, Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan. Email:
[email protected]Search for more papers by this author
Asmat Ullah,
Asmat Ullah
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
Search for more papers by this author Muhammad Farhat Ullah,
Muhammad Farhat Ullah
Department of Bioinformatics and Biotechnology, International Islamic University Islamabad, Islamabad, Pakistan
Search for more papers by this author Zafar Mahmood Khalid,
Zafar Mahmood Khalid
Department of Bioinformatics and Biotechnology, International Islamic University Islamabad, Islamabad, Pakistan
Search for more papers by this author Wasim Ahmad,
Corresponding Author
Wasim Ahmad
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
Correspondence: Wasim Ahmad PhD, Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan. Email:
[email protected]Search for more papers by this author
First published: 16 April 2016
No abstract is available for this article.
References
- 1Rattanasopha S, Tongkobpetch S, Srichomthong C, Kitidumrongsook P, Suphapeetiporn K, Shotelersuk V. Absent expression of the osteoblast specific maternally imprinted genes, DLX5 and DLX6, causes splithand/foot malformation type 1. J. Med. Genet. 2014; 51: 817–23.
- 2Sowinska-Seidler A, Badura-Stronka M, Latos-Bielenska A, Stronka M, Jamsheer A. Heterozygous DLX5 nonsense mutation associated with isolated split hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. Birth Defects Res. A Clin. Mol. Teratol. 2014; 100: 764–71.
- 3Shamseldin HE, Faden MA, Alashram W et al. Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. J. Med. Genet. 2012; 49: 16–20.
- 4Wang X, Xin Q, Li L et al. Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal dominant split-hand/foot malformation. Eur. J. Hum. Genet. 2014; 22: 1105–10.
- 5Rasmussen MB, Kreiborg S, Jensen P et al. Phenotypic subregions within the split-hand/foot malformation 1 locus. Hum. Genet. 2016; 135: 345–57.
