Ann Lab Med.  2024 Jan;44(1):110-117. 10.3343/alm.2024.44.1.110.

Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome

• Amllal N
• Elalaoui SC
• Zerkaoui M
• Chiguer A
• Afif L
• Izgua AT
• Sefiani A
• Lyahyai J

• KMID: 2550232
• DOI: http://doi.org/10.3343/alm.2024.44.1.110

Figure

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  Fig. 1 Genetic analysis of the detected variants involved in our study. (A) The pedigree of patient 1’s family. (B) Electropherograms showing the monoallelic variant ANKRD11:c.3907del in patient 1 (II-3) and its absence in his parents (I-1 & I-2). (C) The pedigree of patient 2’s family. (D) Electropherograms showing the monoallelic mutation ANKRD11:c.1669C>G in patient 2 (II-2) and her mother (I-1) and its absence in her father (I-2). (E) Amino acid alignment of the ANKRD11 protein showing the high conservation of the residue Pro557 (highlighted by a red box) among different mammals. (F) The schematic diagram of the ANKRD11 protein structure showing the location of the two variants on protein level. ANKRD11 protein contains 2,663 residues and 4 functional domains: ANK: ankyrin domains, RD1: repression domain-1, AD: activation domain, RD2: repression domain-2. Patient 1 harbors p.Pro557Ala located on the RD1 domain. Patient 2 harbors p.Val1303Serfs*15 located between RD1 and AD domains.

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