KEGG   DISEASE: Developmental delay with dysmorphic facies and dental anomalies
Entry
H02686                      Disease                                
Name
Developmental delay with dysmorphic facies and dental anomalies
  Subgroup
Den Hoed-de Boer-Voisin syndrome (DHDBV)
Description
Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is a neurodevelopmental disorder associated with SATB1 dysfunction. SATB1 encodes a transcription factor with crucial roles in development and maturation of T cells. Missense variants in the CUT1 and CUT2 DNA-binding domains result in a severe phenotype that is known as den Hoed-de Boer-Voisin syndrome (DHDBV).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02686  Developmental delay with dysmorphic facies and dental anomalies
Gene
(DEFDA/DHDBV) SATB1 [HSA:6304] [KO:K23225]
Other DBs
ICD-11: LD90.Y
OMIM: 619228 619229
Reference
  Authors
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistiene L, Coon H, Delot EC, Demurger F, Denomme-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kucinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preiksaitiene E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM
  Title
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
  Journal
Am J Hum Genet 108:346-356 (2021)
DOI:10.1016/j.ajhg.2021.01.007
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