Article
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
HGG advances - 10 Oct 2024
Maroofian Reza, Pagnamenta Alistair T, Navabazam Alireza, Schwessinger Ron, Roberts Hannah E, Lopopolo Maria, Dehghani Mohammadreza, Vahidi Mehrjardi Mohammad Yahya, Haerian Alireza, Soltanianzadeh Mojtaba, Noori Kooshki Mohammad Hadi, Knight Samantha J L, Miller Kerry A, McGowan Simon J, Chatron Nicolas, Timberlake Andrew T, Melo Uirá Souto, Mundlos Stefan, Buck David, Twigg Stephen R F, Taylor Jenny C, Wilkie Andrew O M, Calpena Eduardo
Abstract excerpt
The aim of this work was to identify the underlying genetic cause in a four-generation family segregating an unusual phenotype comprising a severe form of skeletal Class II malocclusion with gingival hyperplasia. SNP array identified a copy number gain on chromosome 1 (chr1); however, this chromosomal region did not segregate correctly in the extended family. Exome sequencing also failed to identify a candidate...
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