Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

Abstract

We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1–q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analysis confirmed an 8.6 Mb deletion in patients 1 and 2 and a 24.7 Mb deletion in patient 3. We discuss the genes involved in the deleted regions including MYO1B, GLS, FRZB, SATB2, and CPS1 and compare the phenotype with those reported in the literature. Taken together, these data suggest that there is a spectrum of disease severity such that patients with deletions encompassing the region of 2q32.1q32.2, which includes the FRZB gene, show an apparently milder phenotype compared to those that lie further distal in 2q32.3q35 that encompasses the SATB2 gene.

Autistic and Rett‐like features associated with 2q33.3–q34 interstitial deletion

“…We compared the findings in our patient to those of previously reported cases (Table and Fig. ) [Courtens et al, ; Riegel et al, ; Pescucci et al, ; Van Buggenhout et al, ; Bisgaard et al, ; Brandau et al, ; Rosenfeld et al, ; Kasnauskiene et al, ; Mc Cormack et al, ; van Binsbergen et al, ]. Common phenotypic features of cases with deletions that map entirely within the 2q33.3–q34 deleted interval include facial dysmorphisms, microcephaly, high forehead, low‐set ears, hypotonia, autistic traits, growth retardation, and psychomotor delay.…”

SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations

“…In this individual, a G banded karyotype of peripheral lymphocytes showed an interstitial deletion of the long arm of chromosome 2: del(2)(q32.2q33.1) [Glass et al, ]. Since this report, several other cases of 2q deletions have been reported but only 17 with sufficient molecular characterization to determine that the SATB2 gene was part of the deleted region [Van Buggenhout et al, ; de Ravel et al, ; Urquhart et al, ; Rifai et al, ; Balasubramanian et al, ; Mc Cormack et al, ; Tomaszewska et al, ; Yu et al, ; Gregoric Kumperscak et al, ]. The deletions range in size from 2.4 to 26.3 Mb.…”

Case report: early aortic valve degeneration associated with interstitial deletion of chromosome 2–46,XX,del (2)(q31.3; q32.2)

“…To our knowledge, no case reports concerning this particular interstitial deletion with early degeneration of the aortic valve exist. To date, only one report of an interstitial deletion in this region of chromosome 2 has described a congenital cardiac anomaly, however, it was a perimembranous ventricular defect discovered at birth and required operation at 10 weeks of age [2]. Furthermore, one family was described with a chromosome 2 deletion, involving latent transforming growth factor binding proteins which act in the TGF-β pathway, and presented an association with a thoracic aortic aneurysm.…”

“…Interstitial deletions within the long arm of chromosome 2 involving the 2q31q33 region are rare, but their phenotypic features have been well characterised such as those of '2q31.2q32.3 deletion syndrome' [1] which includes developmental delay, behavioral problems, facial dysmorphism and various hand/foot anomalies. Some cardiovascular anomalies have been described in association with mutations of other loci of chromosome 2 [2,3], but this microdeletion has never before been associated with early aortic valve degeneration.…”