Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is a novel multiple malformations syndrome caused by missense mutations in KMT2D. KMT2D encodes a protein that catalyzes the methylation of the lysine 4 on histone 3 (H3K4) in a multiprotein complex. Although many KMT2D variants have been reported in the literature in individuals with Kabuki syndrome type 1 [DS:H00570], BCAHH is clinically and epigenetically distinct from Kabuki syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02943 Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S, Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S
Title
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
