Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

Date publication

juin 2016

Journal

American journal of medical genetics. Part A

Auteurs

Membres identifiés du Cancéropôle Est :
Pr MANDEL Jean-Louis

Tous les auteurs :
Mattioli F, Piton A, Gérard B, Superti-Furga A, Mandel JL, Unger S

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/27061120

Résumé

The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. A variety of neurological signs and symptoms have been reported including hearing loss, autism, behavioral abormalities, hypotonia, cerebral calcifications, and hypoplasia of the corpus callosum. Recently, heterozygous de novo missense mutations in ZBTB20, coding for a zing finger protein, have been identified in Primrose syndrome patients. We report a boy with intellectual disability carrying two de novo missense mutations in the last exon of ZBTB20 (Ser616Phe and Gly741Arg; both previously unreported). One of them, Ser616Phe, affects an amino acid located in one of the C2H2 zing-fingers involved in DNA-binding and close to other missense mutations already described. Reverse phenotyping showed that this patient presents with classic features of Primrose syndrome (dysmorphic facies, macrocephaly, hearing loss, hypotonia, hypoplasia of the corpus callosum) and, in addition, congenital hypothyroidism. Review of the literature reveals another Primrose syndrome patient with hypothyroidism and thus, this may represent an under recognized component that should be investigated in other patients. © 2016 Wiley Periodicals, Inc.

Référence

Am. J. Med. Genet. A. 2016 Jun;170(6):1626-9