Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region

Abstract

Key Clinical MessageChromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations. This rare case might help to understand the genotype‐phenotype spectrum in infants with 10p deletion.

Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13–15.3 Region

“…The deletion of 10p15.3 has been reported by Descipio et al ( 11 ), Vargiami et al ( 12 ), Eggert et al ( 18 ), and Poluha et al ( 19 ). The deletion of 10p15.3–p13 has been reported by Kim et al ( 8 ) and our study.…”

“…In 10p13–10p15.3 microdeletions, zinc finger MYND-type containing 11 ( ZMYND11 ), disco-interacting protein 2 homolog C ( DIP2C ), La ribonucleoprotein 4B ( LARP4B ), and other genes have been reported to be responsible for DGS2, HDR syndrome, or other similar phenotypes ( 8 ). The protein encoded by the ZMYND11 gene (also called BS69 or BRAM1), a cellular nuclear protein containing PHD, Bromo, PWWP, and MYND domains, was originally identified as an adenovirus E1A-binding protein that inhibits the transactivation function of E1A ( 9 ).…”

“…Recently, Kim et al reported the so far largest deletion (16 Mb) in chromosome 10p in a Korean neonate ( 8 ). The clinical manifestations included hypoparathyroidism, hearing loss, genitourinary and cardiac anomalies, thymus hypoplasia, and neural system abnormalities and limb deformities.…”

Barakat syndrome revisited

“…In an extensive review of the literature, we found 173 reported patients. In this report, we review these patients and an additional seven patients observed by the authors (A. Y. Barakat, personal communication, 2017) for a total of 180 patients (Adachi, Tachibana, Asakura, & Tsuchiya, ; Aksoylar et al, ; Ali et al, ; Al‐Shibli, Al Attrach, & Willems, ; Bahceci, Salgur, Tutuncuoglu, Yilmaz, & Oruk, ; Barakat, D'Albora, Martin, & Jose, ; Beetz et al, ; Belge et al, ; Bernandini et al, ; Bilous et al, ; Boysan et al, ; Chen et al, ; Chenouard et al, ; Cheon, Kim, & Yoo, ; Chiu, Chen, Chao, Yann, & Tsai, ; Chu et al, ; Civan et al, ; Doneray, Usui, Kaya, & Dönmez, ; Ferdoush, Mutanabbi, Talukder, Al Helal, & Kawser, ; Fernández et al, ; Ferraris et al, ; Fujimoto et al, ; Fukami et al, ; Gaynor et al, ; Gomes et al, ; Goodwin, Hawley, & Miller, ; Hameed et al, ; Hasegawa et al, ; Hernández et al, ; Higuchi et al, ; Kamezaki et al, ; Kato, Wada, Numata, & Kakizaki, ; Kim et al, ; Kostoglou‐Athanassiou, Stephanopoulos, Karfi, & Athanassiou, ; Lichtner et al, ; Maleki, Bashardoust, Alamdri, & Tavosi, ; Maloo ; Meena, Maloo, Samar, Ruhela, & Saini, ; Melis et al, ; Mino et al, ; Moldovan, Carvalho, Jorge, & Medeira, ; Muroya et al, ; Muroya et al, ; Mutlu, Kırmızıbekmez, Nakamura, Fukami, & Hatun, ; Nakamura et al, ; Nanba et al, ; Nesbit et al, ; Ni & Htet, ; Ohta et al, ; Pollak‐Hainz, Bartsch, Zechner, & Keilmann, ; Ranjbar‐Omrani, Zamiri, Sabayan, & Mohammadzadeh, ; Rodriguez Benitez et al, ; Sau, Chat...…”

Terminal deletion of chromosome 10p13 as a cause of hypoparathyroidism in a neonate

“…Finally, deletion involving a more distal region, 10p15.3, is characterized by neurodevelopmental delay, craniofacial dysmorphism (microcephaly, frontal bossing, blepharoptosis, epicanthal folds, micrognathia, short neck etc. ), brain anomalies and seizures (6,7).…”