A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

Muhammad Ansar; Samra Javed; Hafiz Muhammad Azhar Baig; Mathieu Quinodoz; Mukhtar Ullah; Ji Hoon Han; Muhammad Usama Rahim; Humera Kausar; Giacomo Calzetti; Carlo Rivolta

doi:10.1080/13816810.2022.2096242

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

Ophthalmic Genet. 2022 Oct;43(5):720-723. doi: 10.1080/13816810.2022.2096242. Epub 2022 Aug 10.

Authors

Muhammad Ansar^{1

2

3}, Samra Javed⁴, Hafiz Muhammad Azhar Baig^{1

2

5}, Mathieu Quinodoz^{1

2

6}, Mukhtar Ullah^{1

2}, Ji Hoon Han^{1

2}, Muhammad Usama Rahim⁷, Humera Kausar⁴, Giacomo Calzetti^{1

2}, Carlo Rivolta^{1

2

6}

Affiliations

¹ Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
² Department of Ophthalmology, University of Basel, Basel, Switzerland.
³ Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan.
⁴ Department of Biotechnology, Kinnaird College for Women, Lahore, Pakistan.
⁵ Department of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics, The Islamia University of Bahawalpur, Bahawalpur, Pakistan.
⁶ Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
⁷ Laser Vision Centre, Lahore, Pakistan.

PMID: 35946463
DOI: 10.1080/13816810.2022.2096242

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Letter

MeSH terms

Codon, Nonsense*
Ear / abnormalities
Eye Abnormalities* / genetics
Homeodomain Proteins / genetics
Humans
Mutation
Siblings

Substances

Codon, Nonsense
Homeodomain Proteins

Supplementary concepts

Oculoauricular Syndrome