DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

The original article to which this Erratum refers was published in Human Mutation 36(6):593–598(DOI:10.1002/humu22795).The authors realized that a co-author, Nuria C.

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Adams-Oliver syndrome (AOS) is characterized by the association of aplasia cutis congenita with terminal transverse limb defects, often accompanied by additional cardiovascular or neurological features. Both autosomal-dominant and autosomal-recessive disease transmission have been observed, with recent gene discoveries indicating extensive genetic heterogeneity. Mutations of the DOCK6 gene were first described in autosomal-recessive cases of AOS and only five DOCK6-related families have been reported to date.

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

Introduction: The clinical phenotype of the chromosome 2q31 deletion syndrome consists of limb anomalies ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. Additional internal organ anomalies-for example, heart defects, ocular anomalies-may be present. Hemizygosity for HOXD13 and EVX2 genes was thought to cause the observed skeletal defects.

A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus.

We report a boy with a rare association of congenital anomalies including facial dysmorphism with a very large fontanel and cleft palate, thoracic deformity, right-sided aortic arch, hypoplastic genitals, abdominal wall hypoplasia and a very rare umbilical abnormality, previously unreported. All anomalies are positioned on the midline suggesting a midline ventral developmental field defect. Different diagnoses were considered in this patient, including the pentalogy of Cantrell and Donnai-Barrow syndrome.