De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome

The Say‐Barber/Biesecker/Young‐Simpson (SBBYS) type of the blepharophimosis–mental retardation syndrome group (Ohdo‐like syndromes) is a multiple congenital malformation syndrome characterized by vertical narrowing and shortening of the palpebral fissures, ptosis, intellectual disability, hypothyroi...

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Veröffentlicht in:American journal of medical genetics. Part A 2013-04, Vol.161 (4), p.884-888
Hauptverfasser: Szakszon, Katalin, Salpietro, Carmelo, Kakar, Naseebullah, Knegt, Alida C., Oláh, Éva, Dallapiccola, Bruno, Borck, Guntram
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container_end_page 888
container_issue 4
container_start_page 884
container_title American journal of medical genetics. Part A
container_volume 161
creator Szakszon, Katalin
Salpietro, Carmelo
Kakar, Naseebullah
Knegt, Alida C.
Oláh, Éva
Dallapiccola, Bruno
Borck, Guntram
description The Say‐Barber/Biesecker/Young‐Simpson (SBBYS) type of the blepharophimosis–mental retardation syndrome group (Ohdo‐like syndromes) is a multiple congenital malformation syndrome characterized by vertical narrowing and shortening of the palpebral fissures, ptosis, intellectual disability, hypothyroidism, hearing impairment, and dental anomalies. Mutations of the gene encoding the histone‐acetyltransferase KAT6B have been recently identified in individuals affected by SBBYS syndrome. SBBYS syndrome‐causing KAT6B mutations cluster in a ∼1,700 basepair region in the 3′ part of the large exon 18, while mutations located in the 5′ region of the same exon have recently been identified to cause the genitopatellar syndrome (GPS), a clinically distinct although partially overlapping malformation‐intellectual disability syndrome. Here, we present two children with clinical features of SBBYS syndrome and de novo truncating KAT6B mutations, including a boy who was diagnosed at the age of 4 months. Our results confirm the implication of KAT6B mutations in typical SBBYS syndrome and emphasize the importance of genotype–phenotype correlations at the KAT6B locus where mutations truncating the KAT6B protein at the amino‐acid positions ∼1,350–1,920 cause SBBYS syndrome. © 2013 Wiley Periodicals, Inc.
doi_str_mv 10.1002/ajmg.a.35848
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Mutations of the gene encoding the histone‐acetyltransferase KAT6B have been recently identified in individuals affected by SBBYS syndrome. SBBYS syndrome‐causing KAT6B mutations cluster in a ∼1,700 basepair region in the 3′ part of the large exon 18, while mutations located in the 5′ region of the same exon have recently been identified to cause the genitopatellar syndrome (GPS), a clinically distinct although partially overlapping malformation‐intellectual disability syndrome. Here, we present two children with clinical features of SBBYS syndrome and de novo truncating KAT6B mutations, including a boy who was diagnosed at the age of 4 months. 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subjects Abnormalities, Multiple
Age
Base Sequence
blepharophimosis
Blepharophimosis - diagnosis
Blepharophimosis - genetics
Child, Preschool
Comparative Genomic Hybridization
Congenital Hypothyroidism - diagnosis
Congenital Hypothyroidism - genetics
Exons
Facies
Female
Genetic Association Studies
Heart Defects, Congenital - diagnosis
Heart Defects, Congenital - genetics
Heterozygote
Histone Acetyltransferases - genetics
Humans
Infant
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Joint Instability - diagnosis
Joint Instability - genetics
Karyotype
KAT6B
Male
mental retardation
Mutation
patellar hypoplasia
Phenotype
Say‐Barber/Biesecker/Young‐Simpson syndrome
title De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome
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