Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion

• Published in: Ophthalmic genetics 2017-07, Vol.38 (4), p.383-386
• Main Authors: Preiksaitiene, Egle, Tumienė, Birutė, Maldžienė, Živilė, Pranckevičienė, Erinija, Morkūnienė, Aušra, Utkus, Algirdas, Kučinskas, Vaidutis
• Format: Article
• Language: English
• Subjects: Blepharophimosis - diagnosis; Blepharophimosis - genetics; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 10 - genetics; Developmental Disabilities - diagnosis; Developmental Disabilities - genetics; Female; Histone Acetyltransferases - genetics; Humans; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Karyotyping; Real-Time Polymerase Chain Reaction; Skin Abnormalities - diagnosis; Skin Abnormalities - genetics; Urogenital Abnormalities - diagnosis; Urogenital Abnormalities - genetics
• ISSN: 1381-6810; 1744-5094
• DOI: 10.1080/13816810.2016.1227452

Blepharophimosis is a fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. It is a rare facial malformation and is considered an important diagnostic feature in dysmorphic analysis. It is likely that many patients with blepharophimosis-mental retardation syndrome have submicroscopic chromosomal rearrangements, and the use of molecular karyotyping can narrow the known blepharophimosis-mental retardation-critical regions or clarify the effect of the haploinsufficiency of the involved genes on the phenotype. A female patient presented with bilateral blepharophimosis, ptosis, epicanthus inversus, telecanthus, low-set and small ears, other minor anomalies, hypotonia and psychomotor developmental delay. Metabolic investigations and array CGH analysis were performed. The results of molecular karyotyping were confirmed by real-time PCR analysis. Molecular karyotyping revealed a 5.2 Mb deletion in the 10q22.1q22.3 region. Real-time PCR analysis of the proband and her parents confirmed the deletion in the proband and revealed its de novo origin. With ptosis, hypotonia, and developmental delay as the main diagnostic features of our patient, the effect of histone acetyltransferase-encoding KAT6B gene haploinsufficiency was suspected to have a significant role in determining the phenotype. Detailed clinical characterization of the patient provided additional information on the clinical manifestation of the 10q22 deletion.