2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia

Complex epilepsy phenotype associated with chromosome 2q.24.2-2q24.3 deletion involving sodium channel gene cluster.

“…Patients who have different deletions within this region of chromosome 2 have demonstrated a variety of clinical presentations, including generalized hypotonia occurring with or without seizures. 9 There are also patients exhibiting larger deletions of the 2q24.3-2q31.1 region who have atonic and hypomotor seizures. 3 Most cases of Dravet Syndrome arise from SCN1A variants.…”

Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness

“…While our patient 1 presented the classical signs of the 2q24.2q24.3 deletion, patient 2 presented with a bilateral profound sensorineural deafness due to bilateral stenosis of the internal auditory meatus and internal auditory canal. To our knowledge, only 2 reports of 2q24.2q24.3 deletion with hearing impairment are present in the literature: an infant girl with a deletion of about 5.48 Mb, for which authors suspect that hearing impairment is caused by bilateral cochlear nerve deficiency due to cochlear nerve canal stenosis [Ono et al, 2017], and a 9-month-old female pa- tient with a 5.2-Mb deletion and hearing impairment in the right ear [Zhao et al, 2018]. A third patient has been reported in DECIPHER database (No.…”

“…We hypothesize that genes deleted in our patient 2 could be co-responsible for her profound hearing loss. In homozygous Fign -/mice, the absence of the semicircular canals and hearing loss has been reported [Cox et al, 2000;Zhao et al, 2018]. Another gene comprised in the deleted region is KCNH7, a member of voltage-gated potassium channels.…”

Expression, Localization, and Effect of High Salt Intake on Electroneutral Na+/HCO3– Cotransporter NBCn2 in Rat Small Intestine: Implication in Intestinal NaCl Absorption

“…Na + /HCO 3 – cotransporter NBCn2, the product of SLC4A10 gene, plays significant physiological and pathological roles in the body. In human, genetic abnormality in locus 2q24 spanning SLC4A10 is associated with complex epilepsy, mental retardation, autism spectra, cognitive disabilities, and hearing impairment (Sebat et al, 2007; Gurnett et al, 2008; Krepischi et al, 2010; Belengeanu et al, 2014; Nilsson et al, 2017; Zhao et al, 2018). In mouse, genetic disruption of Slc4a10 reduces neuronal excitability, resulting in increased seizure threshold (Jacobs et al, 2008), impairs the visual acuity and contrast sensitivity (Hilgen et al, 2012), and causes hearing loss (Potter et al, 2016; Huebner et al, 2019).…”