A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features

Abstract

Interstitial deletions of the 16q centromeric region are rarely reported. A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up-slanting palpebral fissures, hypertelorism, epicanthic folds, anteverted nares, simple philtrum, thin upper lip vermilion, high arched palate, posteriorly rotated ears, and overlapping toes in his right foot. Although the deleted region includes the genes responsible for neurological impairments (GNOA1, GPR56, KATNB1, and BBS2), haploinsufficiency of these genes would not be associated with the patient's phenotype. When NDRG4, present in the deleted region, was knocked out in mice, these mice exhibited spatial learning deficits. Thus, we hypothesize that this gene could be a potential candidate underlying the neurological observations of the patient. Because RSPRY1 was been discovered as the cause of progressive skeletal dysplasia, a loss of this gene might explain the skeletal defects observed in the patient.

A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects

“…Fig. 1); arr 10q21.3q22.2(64,892,035-75,320,005) × 1 (hg19); which was confirmed by fluorescence in-situ hybridization analysis, as described (Yamamoto et al 2016), using the bacterial artificial chromosome (BAC) clones RP11-344 L19 at 10q21.3 (68,963,146,082) and RP11-387 K19 at 10p15.3(159,098-322,071) (Fig. 1C).…”

Adult‐Onset Dystonia and Hypertrophic Cardiomyopathy in Patient with a De Novo 16q12.2q21 Deletion

“…Patients with a 16q12.2q21 deletion are rare, with only two complete cases reported to date. 1,2 The deleted region in this patient differs from previous cases. As reported, dystonia may be related to GNAO1 haploinsufficiency.…”