Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

Margherita Lucia De Bernardi, Ivan Ivanovski, Stefano Giuseppe Caraffi, Ilenia Maini, Maria Elisabeth Street, Allan Bayat, Marcella Zollino, Francesca Romana Lepri, Maria Gnazzo, Edoardo Errichiello, Andrea Superti-Furga, Livia Garavelli

Research output: Contribution to journalArticlepeer-review

Abstract

KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat-containing cofactors. After the advent of whole exome sequencing, the number of clinical reports with KBG diagnosis has increased, leading to a revision of the phenotypic spectrum associated with this syndrome. Here, we report a female child showing clinical features of the KBG syndrome in addition to a caudal appendage at the coccyx with prominent skin fold and a peculiar calcaneus malformation. Exons and exon-intron junctions targeted resequencing of SH3PXD2B and MASP1 genes, known to be associated with prominent coccyx, gave negative outcome, whereas sequencing of ANKRD11 whose mutations matched the KBG phenotype of the proband showed a de novo heterozygous frameshift variant c.4528_4529delCC in exon 9 of ANKRD11. This report contributes to expand the knowledge of the clinical features of KBG syndrome and highlights the need to search for vertebral anomalies and suspect this condition in the presence of a prominent, elongated coccyx.

Original languageEnglish
Pages (from-to)1991-1995
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number9
DOIs
Publication statusPublished - Sep 2018

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