Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families

Abstract

Congenital hiatal hernia (HH) is a rare congenital defect and is often described on a sporadic basis, but familial cases have also been reported. The mechanism of development is not well understood, and to our knowledge no specific genetic factors have been implicated to date. We report on seven individuals from two families with 9q22 duplication, who have variably associated features including congenital HH in four individuals. One family had an 1.09 Mb 9q22 duplication, and the other family had an overlapping 2.73 Mb 9q22 duplication. We review the genes in this region and discuss BARX1 (BarH-like homeobox gene 1) as a gene of interest.

Preterm Identical Twins with Hiatal Hernias

“…The literature is consistent with a familial predilection for congenital hiatal hernias [4,10]. Congenital HH have been reported in patients with identified genetic mutations, such as Cornelia de Lange syndrome and duplication in 9q22.31q22.32 [8,11].…”

“…A congenital HH is an uncommon diagnosis in neonates [4,8,9]. The pathogenesis of congenital HH is poorly understood, but it is thought to be due to a developmental abnormality or genetic predisposition [8].…”

“…A congenital HH is an uncommon diagnosis in neonates [4,8,9]. The pathogenesis of congenital HH is poorly understood, but it is thought to be due to a developmental abnormality or genetic predisposition [8]. Connective tissue disorder panel was normal, but this was specific testing for only a subset of genes which does not rule out genetic etiology.…”

Konjenital Anomali ve/veya Nörogelişimsel Geriliği olan Çocukluk Çağındaki Türk Hastalarda Kromozomal Mikroarray Deneyimi: ASXL2 Gen Duplikasyonu ve Xq13 Delesyonunun İncelenmesi

“…Hastada 9q22.31q22.32 bölgesinde 1,2 Mb'lık artış tespit edilmiştir. Aynı bölgenin benzer büyüklükteki kopya artışları, konjenital hiatal hernili ailelerde gösterilmiş ve aday gen olarak BARX1 geni önesürülmüştür 14,15 . Hastamızda da BARX1 geni duplikasyona uğramış olmasına rağmen hiatal herni kliniği bulunmamaktadır.…”

“…Hastamızda da BARX1 geni duplikasyona uğramış olmasına rağmen hiatal herni kliniği bulunmamaktadır. Daha önce bildirilmiş ailelerde de duplikasyon tespit edilen her bireyde hiatal herni kliniği bulunmamakta olup bu durum penetransın tam olmaması ile ilişkilendirilmiştir 14 . 9q22 duplikasyonunda bildirilmiş olan boy kısalığı, entelektüel gerilik, dismorfizm gibi klinik bulguların, PTCH1 geninin dozaj artımına bağlı olabileceği bildirilmiştir 16 .…”