Co-existing bipolar disease and 17q12 deletion: a rare case report

Abstract

Background 17q12 microdeletion syndrome is a rare autosomal dominant chromosomal anomaly, caused by the deletion of a 1.4 Mb-spanning DNA sequence on the long arm of chromosome 17. Herein, we report the first bipolar disease (BPD) case with a 1.6-Mb deletion in the 17q11.2-17q12 chromosome region. Materials and methodsPhysical examination of the case was performed. Karyotype and microarray analyses were performed for the case and the parents. ResultsPhysical examination revealed mild dysmorphic features such as high and forehead, full cheeks, slightly depressed nasal bridge and arched eyebrow. Chromosomal analysis of the patient revealed 46, XX, del(17)(q12) karyotype, and parents' karyotype were normal. In the microarray analysis of patient, 1.6 megabases deletion was detected in the 17q12 region [arr(hg19) 17q12 (34,611,352-36,248,918) ×1]. The microarray analysis of the mother was normal. The father's microarray showed 473 kilobases duplication in the 11p11.12 region. ConclusionAlthough 17q12 deletion syndrome has been associated with bipolar disorder, very few such cases have been described in the literature. Genetic counseling should be considered in patients with remarkable phenotype, complex symptomatology, neurodevelopmental disorder and additional conspicuous medical conditions.

Review of neurodevelopmental disorders in patients with HNF1B gene variations

“…Several studies reported on patients with HNF1B variations in single case studies or case series. Considerably more case studies on patients with a 17q12 microdeletion ( 41 , 42 , 44 – 46 , 48 – 50 , 54 , 58 , 60 ) have been published than on patients with a mutation of HNF1B ( 40 ).…”

“…In the single case studies, all patients with a 17q12 microdeletion were reported to have some kind of NDD, including intellectual disability ( 41 , 44 , 48 ), ADHD ( 48 , 58 ), or ASD ( 49 ). The patient in the single case study with a mutation of HNF1B was reported to have a learning disorder ( 40 ).…”

“…The validity of the prevalence estimations are also limited by insufficient information regarding the diagnostic of NDDs in the reviewed studies. Only in three studies all participants underwent a standardized intelligence test ( 44 , 47 , 49 ), in six studies either only subgroups were assessed or information about the assessment was missing, e.g., name of the test ( 27 , 37 , 53 – 55 , 58 ). Of 11 studies reporting on ASD cases, only three studies described the use of any diagnostic tool ( 27 , 33 , 37 ) and only for one patient with ASD ( 37 ) the diagnosis was assigned according to the NICE guidelines ( 73 ).…”

Hypersensitivity to Psychotropic Medications in a Patient With 17q12 Microdeletion Syndrome

“…Although phenotypic variations are seen in individuals with the 17q12 microdeletion, classical manifestations include diabetes, renal and genitourinary abnormalities, and neuropsychiatric and neurodevelopmental disorders 1,2 . Specifically, this microdeletion confers an increased risk for anxiety disorders, autism spectrum disorder (ASD), bipolar disorder, and schizophrenia 2–5 …”