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A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.

ABSTRACT: Beckwith-Wiedemann syndrome (BWS) and Temple syndrome (TS) are classical imprinting disorders (IDs) with nonconfluent clinical features. We report here on a patient with clinical features of both syndromes, in whom epimutations were found at the BWS and TS imprinted regions, consistent with multilocus imprinting disturbance (MLID). This is the first case report of a patient with clinical features of both conditions who was found to have loss of methylation (LOM) of KCNQ1OT1: TSS-DMR (ICR2) in the 11p15 imprinted region associated with BWS and LOM of MEG3: TSS-DMR in the 14q32 imprinted region associated with TS. The report draws attention to the importance of testing for MLID as a cause of atypical clinical presentations of patients with IDs.

SUBMITTER: Grosvenor SE

PROVIDER: S-EPMC9310769 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.

Grosvenor Sarah E SE Davies Justin H JH Lever Margaret M Sillibourne Julie J Mackay Deborah J G DJG Temple I Karen IK

American journal of medical genetics. Part A 20220309 6

Beckwith-Wiedemann syndrome (BWS) and Temple syndrome (TS) are classical imprinting disorders (IDs) with nonconfluent clinical features. We report here on a patient with clinical features of both syndromes, in whom epimutations were found at the BWS and TS imprinted regions, consistent with multilocus imprinting disturbance (MLID). This is the first case report of a patient with clinical features of both conditions who was found to have loss of methylation (LOM) of KCNQ1OT1: TSS-DMR (ICR2) in th ...[more]

PMID: 35266280

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